List Of MeSH Codes (C16)
   HOME

TheInfoList



OR:

The following is a partial list of the "C" codes for
Medical Subject Headings Medical Subject Headings (MeSH) is a comprehensive controlled vocabulary for the purpose of indexing journal articles and books in the life sciences. It serves as a thesaurus that facilitates searching. Created and updated by the United States N ...
(MeSH), as defined by the United States National Library of Medicine (NLM). This list continues the information at List of MeSH codes (C15). Codes following these are found at
List of MeSH codes (C17) The following is a partial list of the "C" codes for Medical Subject Headings (MeSH), as defined by the United States National Library of Medicine (NLM). This list continues the information at List of MeSH codes (C16). Codes following these are ...
. For other MeSH codes, see List of MeSH codes. The source for this content is the set o
2006 MeSH Trees
from the NLM.


congenital, hereditary, and neonatal diseases and abnormalities


abnormalities The Spill Canvas is an American alternative rock band from Sioux Falls, South Dakota. Known for their hits "All Over You" "Our Song" and "Staplegunned", as well as several emo classics like "All Hail the Heartbreaker" "The Tide" and "Polygraph, ...


abnormalities, drug-induced


abnormalities, multiple

* – Alagille syndrome * –
Angelman syndrome Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no f ...
* – Bardet–Biedl syndrome * – basal-cell nevus syndrome * –
Beckwith–Wiedemann syndrome Beckwith–Wiedemann syndrome (; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (97th centile) * Macroglossia * Hemihyperplas ...
* – Bloom syndrome * –
branchio-oto-renal syndrome Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndrom ...
* –
Cockayne syndrome Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosen ...
* – cri du chat syndrome * – De Lange syndrome * – Down syndrome * – ectodermal dysplasia * – Ellis–van Creveld syndrome * – focal dermal hypoplasia * –
neurocutaneous syndromes Phakomatoses, also known neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses ar ...
* – Gardner's syndrome * – holoprosencephaly * – incontinentia pigmenti * – Laurence–Moon syndrome * – Leopard syndrome * –
Marfan syndrome Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints a ...
* – Möbius syndrome * – nail–patella syndrome * – oculocerebrorenal syndrome * – orofaciodigital syndromes * – POEMS syndrome * – Prader–Willi syndrome * – proteus syndrome * – prune belly syndrome * – rubella syndrome, congenital * – Rubinstein–Taybi syndrome * – Short rib – polydactyly syndrome * – Smith–Lemli–Opitz syndrome * – Waardenburg syndrome * – Wolfram syndrome * – Zellweger syndrome


abnormalities, radiation-induced


cardiovascular abnormalities

* – arterio-arterial fistula * – arteriovenous malformations * – arteriovenous fistula * – intracranial arteriovenous malformations * – central nervous system vascular malformations * – heart defects, congenital * –
aortic coarctation Coarctation of the aorta (CoA or CoAo), also called aortic narrowing, is a congenital condition whereby the aorta is narrow, usually in the area where the ductus arteriosus (ligamentum arteriosum after regression) inserts. The word ''coarctation' ...
* – arrhythmogenic right ventricular dysplasia * –
cor triatriatum Cor triatriatum (or triatrial heart) is a congenital heart defect where the left atrium (cor triatriatum sinistrum) or right atrium (cor triatriatum dextrum) is subdivided by a thin membrane, resulting in three atrial chambers (hence the name). ...
* –
coronary vessel anomalies Coronary artery anomalies are variations of the coronary circulation, affecting 1% of an unselected population -      ''normal variant'': an alternative, unusual but benign morphological feature identified in >1% of the same population (e.g. le ...
* – crisscross heart * – dextrocardia * – Kartagener syndrome * –
ductus arteriosus, patent ''Patent ductus arteriosus'' (PDA) is a medical condition in which the '' ductus arteriosus'' fails to close after birth: this allows a portion of oxygenated blood from the left heart to flow back to the lungs by flowing from the aorta, which ...
* – Ebstein's anomaly * –
Eisenmenger complex Eisenmenger syndrome or Eisenmenger's syndrome is defined as the process in which a long-standing left-to-right cardiac shunt caused by a congenital heart defect (typically by a ventricular septal defect, atrial septal defect, or less commonly, ...
* –
heart septal defects Heart septal defect refers to a congenital heart defect of one of the septa of the heart. * Atrial septal defect * Atrioventricular septal defect * Ventricular septal defect Although aortopulmonary septal defects are defects of the aorticopu ...
* –
aortopulmonary septal defect Aortopulmonary septal defect is a rare congenital heart disorder accounting for only 0.1-0.3% of congenital heart defects worldwide. It is characterized by a communication between the aortic and pulmonary arteries, with preservation of two normal s ...
* –
endocardial cushion defects Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common atrioventricular canal" (CAVC) or "endocardial cushion defect" (ECD), is characterized by a deficiency of the atrioventricular septum of the heart ...
* –
heart septal defects, atrial Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper chambers) of the heart. Some flow is a normal condition both pre-birth and immediately post-birth via the foramen ovale; however, when this ...
* – Lutembacher's syndrome * –
Trilogy of Fallot The Trilogy of Fallot also called Fallot's trilogy is a rare congenital heart disease consisting of the following defects: pulmonary valve stenosis, right ventricular hypertrophy and atrial septal defect. It occurs in 1.2% of all congenital heart ...
* –
heart septal defects, ventricular A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. The extent of the opening may vary from pin size to complete absence of the ventricular septum, creating on ...
* – hypoplastic left heart syndrome * – Leopard syndrome * – levocardia * –
Marfan syndrome Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints a ...
* – Tetralogy of Fallot * – transposition of great vessels * – double outlet right ventricle * – tricuspid atresia * – truncus arteriosus, persistent * – pulmonary atresia * – scimitar syndrome


chromosome disorders

* –
Angelman syndrome Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no f ...
* –
Beckwith–Wiedemann syndrome Beckwith–Wiedemann syndrome (; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (97th centile) * Macroglossia * Hemihyperplas ...
* –
branchio-oto-renal syndrome Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndrom ...
* – cri du chat syndrome * – De Lange syndrome * – Down syndrome * – holoprosencephaly * – Prader–Willi syndrome * – Rubinstein–Taybi syndrome * –
sex chromosome disorders Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called ''gonosomes''). In humans this may refer to: * 45, X, also known as Turner s ...
* – ectodermal dysplasia * – focal dermal hypoplasia * –
fragile X syndrome Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may ...
* – gonadal dysgenesis, 46,xy * – gonadal dysgenesis, mixed * – Klinefelter syndrome * – orofaciodigital syndromes * – Turner syndrome * – WAGR syndrome * – Williams syndrome


DiGeorge syndrome


digestive system abnormalities

* – anus, imperforate * –
biliary atresia Biliary atresia, also known as extrahepatic ductopenia and progressive obliterative cholangiopathy, is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. It can be congenital or acquired. I ...
* –
choledochal cyst Choledochal cysts (a.k.a. bile duct cyst) are congenital conditions involving cystic dilatation of bile ducts. They are uncommon in western countries but not as rare in East Asian nations like Japan and China. Signs and symptoms Most patients hav ...
* – Caroli disease * – diaphragmatic eventration * – esophageal atresia * – Hirschsprung's disease * –
intestinal atresia Intestinal atresia is any congenital malformation of the structure of the intestine that causes bowel obstruction. The malformation can be a narrowing (stenosis), absence or malrotation of a portion of the intestine. These defects can either occur ...
* – Meckel's diverticulum


eye abnormalities Eyes are organs of the visual system. They provide living organisms with vision, the ability to receive and process visual detail, as well as enabling several photo response functions that are independent of vision. Eyes detect light and con ...

* –
aniridia Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it, the central eye appears all black. It can be congenital, in which both eye ...
* – WAGR syndrome * –
anophthalmos Anophthalmia, (Greek: ἀνόφθαλμος, "without eye"), is the medical term for the absence of one or both eyes. Both the globe (human eye) and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orb ...
* – blepharophimosis * – coloboma * – ectopia lentis * –
hydrophthalmos Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants and young children. It is sometimes referred to as buphthalmia (plural buphthalmias). It usually appears in the newborn period or the first 3 mo ...
* –
microphthalmos Microphthalmia (Greek: grc, μικρός, mikros, small, label=none, grc, ὀφθαλμός, ophthalmos, eye, label=none, also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both ( ...
* – retinal dysplasia


lymphatic abnormalities

* – lymphangiectasis, intestinal


monsters

* – anencephaly * – twins, conjoined


musculoskeletal abnormalities

* – arthrogryposis * – craniofacial abnormalities * – cleidocranial dysplasia * –
craniofacial dysostosis Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial ...
* – Hallermann's syndrome * – hypertelorism * – mandibulofacial dysostosis * – goldenhar syndrome * –
craniosynostoses Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...
* –
acrocephalosyndactylia Acrocephalosyndactyly is a group of autosomal dominant congenital disorders characterized by craniofacial (craniosynostosis) and hand and foot (syndactyly) abnormalities. When polydactyly is present, the classification is acrocephalopolysyndactyl ...
* – holoprosencephaly * – Leopard syndrome * – maxillofacial abnormalities * –
cherubism Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often m ...
* – jaw abnormalities * – cleft palate * –
micrognathism Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnorma ...
* – Pierre Robin syndrome * –
prognathism Prognathism, also called Habsburg jaw or Habsburgs' jaw primarily in the context of its prevalence amongst members of the House of Habsburg, is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws pr ...
* – retrognathism * – microcephaly * – Noonan syndrome * – orofaciodigital syndromes * – plagiocephaly, nonsynostotic * – platybasia * – Rubinstein–Taybi syndrome * – funnel chest * – gastroschisis * – Hajdu–Cheney syndrome * – hip dislocation, congenital * – Klippel–Feil syndrome * – limb deformities, congenital * – ectromelia * – foot deformities, congenital * – hand deformities, congenital * – lower extremity deformities, congenital * – polydactyly * – short rib – polydactyly syndrome * – proteus syndrome * – syndactyly * –
acrocephalosyndactylia Acrocephalosyndactyly is a group of autosomal dominant congenital disorders characterized by craniofacial (craniosynostosis) and hand and foot (syndactyly) abnormalities. When polydactyly is present, the classification is acrocephalopolysyndactyl ...
* – Poland syndrome * –
thanatophoric dysplasia Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs. Symptoms and signs Infants with this condition have disproportionately ...
* – upper extremity deformities, congenital * – synostosis * –
craniosynostoses Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...
* –
acrocephalosyndactylia Acrocephalosyndactyly is a group of autosomal dominant congenital disorders characterized by craniofacial (craniosynostosis) and hand and foot (syndactyly) abnormalities. When polydactyly is present, the classification is acrocephalopolysyndactyl ...
* – syndactyly * –
acrocephalosyndactylia Acrocephalosyndactyly is a group of autosomal dominant congenital disorders characterized by craniofacial (craniosynostosis) and hand and foot (syndactyly) abnormalities. When polydactyly is present, the classification is acrocephalopolysyndactyl ...
* – Poland syndrome


nervous system malformations

* – central nervous system cyst * –
arachnoid cyst Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the three meningeal layers that cover the brain and the ...
* – central nervous system vascular malformations * – hemangioma, cavernous, central nervous system * – central nervous system venous angioma * – sinus pericranii * – Dandy–Walker syndrome * – hereditary motor and sensory neuropathies * – Charcot–Marie–Tooth disease * – Refsum disease * – spastic paraplegia, hereditary * –
hereditary sensory and autonomic neuropathies Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation. They are less common than Charcot-Marie-Tooth disease. Classif ...
* – dysautonomia, familial * – holoprosencephaly * – hydranencephaly * – intracranial arteriovenous malformations * – neural tube defects * – anencephaly * – Arnold–Chiari malformation * – encephalocele * – meningocele * – meningomyelocele * – spinal dysraphism * – spina bifida cystica * – spina bifida occulta * – septo-optic dysplasia


respiratory system abnormalities

* – bronchogenic cyst * –
bronchopulmonary sequestration A pulmonary sequestration is a medical condition wherein a piece of tissue that ultimately develops into lung tissue is not attached to the pulmonary arterial blood supply, as is the case in normally developing lung. This sequestered tissue is the ...
* – choanal atresia * – cystic adenomatoid malformation of lung, congenital * – kartagener syndrome * – scimitar syndrome * –
tracheobronchomegaly Tracheobronchomegaly is a very rare congenital disorder of the lung primarily characterized by an abnormal widening of the upper airways. The abnormally widened trachea and mainstem bronchi are associated with recurrent lower respiratory tract inf ...


situs inversus

* – dextrocardia * – kartagener syndrome * – levocardia


skin abnormalities

* –
acrodermatitis Acrodermatitis /ac·ro·der·ma·ti·tis/ is a childhood form of dermatitis selectively affecting the hands and feet and may be accompanied by mild symptoms of fever and malaise. It may also be associated with hepatitis B and other viral infectio ...
* – dyskeratosis congenita * – ectodermal dysplasia * – Ellis–van Creveld syndrome * – focal dermal hypoplasia * –
neurocutaneous syndromes Phakomatoses, also known neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses ar ...
* – Ehlers–Danlos syndrome * – epidermolysis bullosa * – epidermolysis bullosa acquisita * – epidermolysis bullosa dystrophica * – epidermolysis bullosa, junctional * – epidermolysis bullosa simplex * – ichthyosis * – ichthyosiform erythroderma, congenital * – hyperkeratosis, epidermolytic * – ichthyosis, lamellar * – ichthyosis vulgaris * – ichthyosis, x-linked * – Sjögren–Larsson syndrome * – incontinentia pigmenti * – port-wine stain * – pseudoxanthoma elasticum * – Rothmund–Thomson syndrome * – sclerema neonatorum * – xeroderma pigmentosum


stomatognathic system abnormalities

* – maxillofacial abnormalities * – jaw abnormalities * – cleft palate * –
micrognathism Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnorma ...
* – Pierre Robin syndrome * –
prognathism Prognathism, also called Habsburg jaw or Habsburgs' jaw primarily in the context of its prevalence amongst members of the House of Habsburg, is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws pr ...
* – retrognathism * – mouth abnormalities * – cleft lip * – cleft palate * – fibromatosis, gingival * –
macrostomia Macrostomia refers to a mouth that is unusually wide. The term is from the Greek prefix ''makro-'' meaning "large" and from Greek στόμα, "mouth".microstomia Microstomia is a small mouth (''micro-'' a combining form meaning small + ''-stomia'' a combining form meaning mouth = (abnormally) "small mouth" in Greek.) Congenital It is a feature of many craniofacial syndromes, including Freeman–Sheldon ...
* – velopharyngeal insufficiency * – tooth abnormalities * – amelogenesis imperfecta * – dental enamel hypoplasia * – anodontia * – dens in dente * –
dentin dysplasia Dentin dysplasia (DD) is a rare genetic developmental disorder affecting dentine production of the teeth, commonly exhibiting an autosomal dominant inheritance that causes malformation of the root. It affects both primary and permanent dentitions ...
* – dentinogenesis imperfecta * – fused teeth * – odontodysplasia * – tooth, supernumerary


thyroid dysgenesis

* – lingual thyroid * – lingual goiter


urogenital abnormalities

* – bladder exstrophy * – cryptorchidism * –
epispadias An epispadias is a rare type of malformation in which the urethra ends, in males, in an opening on the upper aspect of the penis, and in females when the urethra develops too far anteriorly. It occurs in around 1 in 120,000 male and 1 in 500,000 ...
* –
frasier syndrome Frasier syndrome is a urogenital anomaly associated with the '' WT1'' (Wilms tumor 1 gene) gene. It was first characterized in 1964. Presentation Both males and females can have Frasier syndrome but their presentations can be different. Affect ...
* – hypospadias * – multicystic dysplastic kidney * – nephritis, hereditary * – sex differentiation disorders * – freemartinism * – gonadal dysgenesis * – gonadal dysgenesis, 46,xx * – gonadal dysgenesis, 46,xy * – gonadal dysgenesis, mixed * – turner syndrome * – hermaphroditism * – hermaphroditism, true * – pseudohermaphroditism * – androgen insensitivity syndrome * – Denys–Drash syndrome * – Kallmann syndrome * – Klinefelter syndrome * – WAGR syndrome


fetal diseases


chorioamnionitis


erythroblastosis, fetal

* – hydrops fetalis


fetal alcohol syndrome


fetal hypoxia Intrauterine hypoxia (also known as fetal hypoxia) occurs when the fetus is deprived of an adequate supply of oxygen. It may be due to a variety of reasons such as prolapse or occlusion of the umbilical cord, placental infarction, maternal diabe ...


fetal growth retardation


fetal macrosomia


meconium aspiration syndrome


genetic diseases, inborn


adrenal hyperplasia, congenital


anemia, hemolytic, congenital

* – anemia, dyserythropoietic, congenital * – anemia, hemolytic, congenital nonspherocytic * – anemia, sickle cell * – hemoglobin SC disease * – sickle cell trait * – elliptocytosis, hereditary * – glucosephosphate dehydrogenase deficiency * – favism * –
hemoglobin c disease Hemoglobin C (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th position of the β-globin chain is replaced with a lysine residue due to a point mutation in the '' HBB'' gene. People with one copy of the ge ...
* – spherocytosis, hereditary * –
thalassemia Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells or hemoglobin). Anemia can result ...
* – alpha-thalassemia * – beta-thalassemia


anemia, hypoplastic, congenital

* – anemia, Diamond–Blackfan * – fanconi anemia


ataxia telangiectasia


blood coagulation disorders, inherited

* – activated protein C resistance * – afibrinogenemia * – antithrombin III deficiency * – Bernard–Soulier syndrome * – factor V deficiency * – factor VII deficiency * – factor X deficiency * – factor XI deficiency * –
factor XII deficiency Factor XII deficiency is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and clotting factor that participates in the coagulation cascade and activates factor XI. FXII appears to be not essential for blood clotting, as ...
* –
factor XIII deficiency Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is one in a million to one in five million people, with higher incidence in areas with consanguineous marriage such as Iran that has the highest glo ...
* – hemophilia A * – hemophilia B * – Hermansky–Pudlak syndrome * – hypoprothrombinemias * – protein C deficiency * – thrombasthenia * – Von Willebrand disease * – Wiskott–Aldrich syndrome


CADASIL


cardiomyopathy, hypertrophic, familial


cherubism Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often m ...


chromosome disorders

* –
angelman syndrome Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no f ...
* –
Beckwith–Wiedemann syndrome Beckwith–Wiedemann syndrome (; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (97th centile) * Macroglossia * Hemihyperplas ...
* –
branchio-oto-renal syndrome Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndrom ...
* – cri du chat syndromeDe Lange syndrome * – Down syndrome * – holoprosencephaly * – Prader–Willi syndrome * – Rubinstein–Taybi syndrome * –
sex chromosome disorders Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called ''gonosomes''). In humans this may refer to: * 45, X, also known as Turner s ...
* – ectodermal dysplasia * – focal dermal hypoplasia * –
fragile X syndrome Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may ...
* – gonadal dysgenesis, 46,xy * – gonadal dysgenesis, mixed * – Klinefelter syndrome * – orofaciodigital syndromes * – Turner syndrome * – WAGR syndrome * – Williams syndrome


cystic fibrosis Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. O ...


dwarfism Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. In humans, it is sometimes defined as an adult height of less than , regardless of sex; the average adult height among people with dw ...

* – achondroplasia * –
cockayne syndrome Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosen ...
* – congenital hypothyroidism * – laron syndrome * – mulibrey nanism


eye diseases, hereditary Eyes are organs of the visual system. They provide living organisms with vision, the ability to receive and process visual detail, as well as enabling several photo response functions that are independent of vision. Eyes detect light and con ...

* – albinism * – albinism, ocular * – albinism, oculocutaneous * – Hermansky–Pudlak syndrome * – piebaldism * –
aniridia Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it, the central eye appears all black. It can be congenital, in which both eye ...
* – WAGR syndrome * – choroideremia * –
corneal dystrophies, hereditary The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical ...
* – Fuchs' endothelial dystrophy * – Duane retraction syndrome * –
gyrate atrophy Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by ...
* – optic atrophies, hereditary * – optic atrophy, hereditary, leber * – optic atrophy, autosomal dominant * – Wolfram syndrome * – retinal dysplasia * – retinitis pigmentosa * –
Usher syndromes Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resu ...


familial Mediterranean fever


genetic diseases, x-linked

* – androgen insensitivity syndrome * – choroideremia * – dyskeratosis congenita * – fabry disease * – focal dermal hypoplasia * – glycogen storage disease type IIb * – glycogen storage disease type VIII * – granulomatous disease, chronic * – ichthyosis, x-linked * – hemophilia B * – mental retardation, x-linked * – adrenoleukodystrophy * – Coffin–Lowry syndrome * –
fragile X syndrome Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may ...
* – Lesch–Nyhan syndrome * – Menkes kinky hair syndrome * – mucopolysaccharidosis II * – pyruvate dehydrogenase complex deficiency disease * – Rett syndrome * – muscular dystrophy, Duchenne * – muscular dystrophy, Emery–Dreifuss * – oculocerebrorenal syndrome * – Pelizaeus–Merzbacher disease * – Wiskott–Aldrich syndrome


genetic diseases, y-linked


Hajdu–Cheney syndrome


hemoglobinopathies

* – anemia, sickle cell * – hemoglobin sc disease * – sickle cell trait * –
hemoglobin c disease Hemoglobin C (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th position of the β-globin chain is replaced with a lysine residue due to a point mutation in the '' HBB'' gene. People with one copy of the ge ...
* –
thalassemia Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells or hemoglobin). Anemia can result ...
* – alpha-thalassemia * – hydrops fetalis * – beta-thalassemia


heredodegenerative disorders, nervous system

* – Alexander disease * – amyloid neuropathies, familial * – Canavan disease * –
Cockayne syndrome Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosen ...
* – dystonia musculorum deformans * – Gerstmann–Sträussler–Scheinker disease * – Hallervorden–Spatz syndrome * –
hepatolenticular degeneration Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, ...
* – hereditary central nervous system demyelinating diseases * – hereditary motor and sensory neuropathies * – Charcot–Marie–Tooth disease * – Refsum disease * – spastic paraplegia, hereditary * –
hereditary sensory and autonomic neuropathies Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation. They are less common than Charcot-Marie-Tooth disease. Classif ...
* – dysautonomia, familial * – Huntington disease * –
Lafora disease Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusi ...
* – Lesch–Nyhan syndrome * – Menkes kinky hair syndrome * – mental retardation, x-linked * – adrenoleukodystrophy * – Coffin–Lowry syndrome * –
fragile X syndrome Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may ...
* – Lesch–Nyhan syndrome * – Menkes kinky hair syndrome * – mucopolysaccharidosis II * – pyruvate dehydrogenase complex deficiency disease * – Rett syndrome * – myotonia congenita * – myotonic dystrophy * – neurofibromatosis * – neurofibromatosis 1 * –
neurofibromatosis 2 Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, ...
* – neuronal ceroid-lipofuscinosis * – optic atrophies, hereditary * – optic atrophy, hereditary, leber * – optic atrophy, autosomal dominant * – Wolfram syndrome * – Rett syndrome * – spinal muscular atrophies of childhood * –
spinocerebellar degenerations Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of sp ...
* – Friedreich's ataxia * – myoclonic cerebellar dyssynergia * – olivopontocerebellar atrophies * – spinocerebellar ataxias * – Machado–Joseph disease * – Tourette syndrome * –
tuberous sclerosis Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination ...
* – Unverricht–Lundborg syndrome


hyperthyroxinemia, familial dysalbuminemic


Jervell and Lange-Nielsen syndrome


kallmann syndrome


kartagener syndrome


marfan syndrome Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints a ...


metabolism, inborn errors

* – amino acid metabolism, inborn errors * – albinism * – albinism, ocular * – albinism, oculocutaneous * – Hermansky–Pudlak syndrome * – piebaldism * – alkaptonuria * – aminoaciduria, renal * – cystinuria * – Hartnup disease * – carbamoyl-phosphate synthase I deficiency disease * –
citrullinemia Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Two for ...
* – homocystinuria * – hyperargininemia * – hyperglycinemia, nonketotic * – hyperhomocysteinemia * – hyperlysinemias * – maple syrup urine disease * –
multiple carboxylase deficiency Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase synthetase. These conditions respond to biotin. Forms include: * Holocarboxylase ...
* – biotinidase deficiency * –
holocarboxylase synthetase deficiency Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by im ...
* – ornithine carbamoyltransferase deficiency disease * – phenylketonurias * – phenylketonuria, maternal * – tyrosinemias * – amino acid transport disorders, inborn * – Hartnup disease * – oculocerebrorenal syndrome * – amyloidosis, familial * – amyloid neuropathies, familial * – cerebral amyloid angiopathy, familial * – brain diseases, metabolic, inborn * – abetalipoproteinemia * – carbamoyl-phosphate synthase I deficiency disease * – cerebral amyloid angiopathy, familial * –
citrullinemia Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Two for ...
* – galactosemias * – Hartnup disease * –
hepatolenticular degeneration Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, ...
* – homocystinuria * – hyperargininemia * – hyperglycinemia, nonketotic * – hyperlysinemias * –
Leigh disease Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who fir ...
* – Lesch–Nyhan syndrome * – lysosomal storage diseases, nervous system * – fucosidosis * – glycogen storage disease type II * – mucolipidoses * – sialic acid storage disease * – sphingolipidoses * – Fabry disease
gangliosidoses Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equall ...
* – gangliosidoses GM2 * – Sandhoff disease * – Tay–Sachs disease * – Tay–Sachs disease, AB variant * – gangliosidosis GM1 * – Gaucher disease * – leukodystrophy, globoid cell * – leukodystrophy, metachromatic * – Niemann–Pick diseases * – maple syrup urine disease * – MELAS syndrome * – Menkes kinky hair syndrome * – MERRF syndrome * – oculocerebrorenal syndrome * – ornithine carbamoyltransferase deficiency disease * – peroxisomal disorders * – adrenoleukodystrophy * – Refsum disease * – Zellweger syndrome * – phenylketonurias * – phenylketonuria, maternal * – pyruvate carboxylase deficiency disease * – pyruvate dehydrogenase complex deficiency disease * – tyrosinemias * – carbohydrate metabolism, inborn errors * – carbohydrate-deficient glycoprotein syndrome * – fructose metabolism, inborn errors * – fructose-1,6-diphosphatase deficiency * – Hereditary fructose intolerance * – fucosidosis * – galactosemias * –
glycogen storage disease A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by an enzyme deficiency affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. GSD has ...
* – glycogen storage disease type I * – glycogen storage disease type II * – glycogen storage disease type IIb * – glycogen storage disease type III * – glycogen storage disease type IV * – glycogen storage disease type V * – glycogen storage disease type VI * – glycogen storage disease type VII * – glycogen storage disease type VIII * – hyperoxaluria, primary * – lactose intolerance * – mannosidase deficiency diseases * – alpha-mannosidosis * – beta-mannosidosis * – mucolipidoses * –
mucopolysaccharidoses Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cel ...
* – mucopolysaccharidosis I * – mucopolysaccharidosis II * – mucopolysaccharidosis III * – mucopolysaccharidosis IV * –
mucopolysaccharidosis VI Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cel ...
* – mucopolysaccharidosis VII * –
multiple carboxylase deficiency Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase synthetase. These conditions respond to biotin. Forms include: * Holocarboxylase ...
* – biotinidase deficiency * –
holocarboxylase synthetase deficiency Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by im ...
* –
nesidioblastosis Nesidioblastosis is a controversial medical term for hyperinsulinemic hypoglycemia attributed to excessive insulin production by pancreatic beta cells that have an abnormal microscopic appearance. The term was coined in the first half of the 20th c ...
* – persistent hyperinsulinemia hypoglycemia of infancy * – pyruvate metabolism, inborn errors * –
Leigh disease Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who fir ...
* – pyruvate carboxylase deficiency disease * – pyruvate dehydrogenase complex deficiency disease * – cytochrome-c oxidase deficiency * – glucosephosphate dehydrogenase deficiency * – hyperbilirubinemia, hereditary * – Crigler–Najjar syndrome * – Gilbert disease * – jaundice, chronic idiopathic * – lipid metabolism, inborn errors * – hypercholesterolemia, familial * – hyperlipidemia, familial combined * – hypercholesterolemia, familial * – hyperlipoproteinemia type IV * – hyperlipoproteinemia type III * – hyperlipoproteinemia type IV * – hyperlipoproteinemia type V * – hypolipoproteinemia * – abetalipoproteinemia * – hypobetalipoproteinemia * – lecithin acyltransferase deficiency * – Tangier disease * – lipoidosis * – cholesterol ester storage disease * – lipoidproteinosis * – neuronal ceroid-lipofuscinosis * – refsum disease * – sjogren-larsson syndrome * – sphingolipidoses * – Fabry disease * –
gangliosidoses Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equall ...
* – gangliosidoses GM2 * – Sandhoff disease * – Tay–Sachs disease * – Tay–Sachs disease, AB variant * – gangliosidosis GM1 * – Gaucher disease * – leukodystrophy, globoid cell * – leukodystrophy, metachromatic * – Niemann–Pick diseases * – sea-blue histiocyte syndrome * – Wolman disease * –
lipoprotein lipase deficiency, familial Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lea ...
* – peroxisomal disorders * –
acatalasia Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the enzyme catalase. Catalase breaks down hydrogen peroxide in cells into water and oxygen. Low levels of catalase can cause hydrogen peroxide to buil ...
* – adrenoleukodystrophy * – chondrodysplasia punctata, rhizomelic * – Refsum disease * – Zellweger syndrome * – Smith–Lemli–Opitz syndrome * – xanthomatosis, cerebrotendinous * – lysosomal storage diseases * – cholesterol ester storage disease * – lysosomal storage diseases, nervous system * – fucosidosis * – glycogen storage disease type II * – mucolipidoses * – sialic acid storage disease * – sphingolipidoses * – Fabry disease * –
gangliosidoses Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equall ...
* – gangliosidoses GM2 * – Sandhoff disease * – Tay–Sachs disease * – Tay–Sachs disease, AB variant * – gangliosidosis GM1 * – Gaucher disease * – leukodystrophy, globoid cell * – leukodystrophy, metachromatic * – Niemann–Pick diseases * – mannosidase deficiency diseases * – alpha-mannosidosis * – beta-mannosidosis * –
mucopolysaccharidoses Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cel ...
* – mucopolysaccharidosis I * – mucopolysaccharidosis II * – mucopolysaccharidosis III * – mucopolysaccharidosis IV * –
mucopolysaccharidosis VI Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cel ...
* – mucopolysaccharidosis VII * – sphingolipidoses * – Fabry disease * –
gangliosidoses Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equall ...
* – gangliosidoses GM2 * – Sandhoff disease * – Tay–Sachs disease * – Tay–Sachs disease, AB variant * – Gaucher disease * – leukodystrophy, globoid cell * – leukodystrophy, metachromatic * – niemann-pick diseases * – sea-blue histiocyte syndrome * – Wolman disease * – metal metabolism, inborn errors * – hemochromatosis * –
hepatolenticular degeneration Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, ...
* –
hypophosphatasia Hypophosphatasia (; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, or Rathbun's syndrome; sometimes abbreviated HPP) is a rare, and sometimes fatal, inherited metabolic bone disease. Clinical symptoms are heterogeneous, ...
* – hypophosphatemia, familial * – Menkes kinky hair syndrome * – paralyses, familial periodic * – hypokalemic periodic paralysis * – paralysis, hyperkalemic periodic * – Andersen syndrome * – pseudohypoparathyroidism * – pseudopseudohypoparathyroidism * – porphyria, erythropoietic * – porphyrias, hepatic * – coproporphyria, hereditary * – porphyria, acute intermittent * – porphyria cutanea tarda * – porphyria, hepatoerythropoietic * – porphyria, variegate * – protoporphyria, erythropoietic * – progeria * – purine–pyrimidine metabolism, inborn errors * – gout * – arthritis, gouty * – Lesch–Nyhan syndrome * – renal tubular transport, inborn errors * – acidosis, renal tubular * – aminoaciduria, renal * – cystinuria * – Hartnup disease * – cystinosis * – Fanconi syndrome * – glycosuria, renal * – hypophosphatemia, familial * – oculocerebrorenal syndrome * – pseudohypoaldosteronism * – steroid metabolism, inborn errors * – adrenal hyperplasia, congenital * – mineralocorticoid excess syndrome, apparent * – ichthyosis, x-linked * – Smith–Lemli–Opitz syndrome


muscular dystrophies

* – distal myopathies * – glycogen storage disease type VII * – muscular dystrophies, limb-girdle * – muscular dystrophy, Duchenne * – muscular dystrophy, Emery–Dreifuss * – muscular dystrophy, facioscapulohumeral * – muscular dystrophy, oculopharyngeal * – myotonic dystrophy


myasthenic syndromes, congenital


nail–patella syndrome


neoplastic syndromes, hereditary

* – adenomatous polyposis coli * – Gardner's syndrome * – basal-cell nevus syndrome * – colorectal neoplasms, hereditary nonpolyposis * – dysplastic nevus syndrome * – exostoses, multiple hereditary * – hamartoma syndrome, multiple * –
Li–Fraumeni syndrome Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. It was named after two American physicians, Frederick Pei Li and Joseph F. Fraumeni, Jr., who first recognized the syndrom ...
* – multiple endocrine neoplasia * – multiple endocrine neoplasia type 1 * – multiple endocrine neoplasia type 2a * – multiple endocrine neoplasia type 2b * – Wilms' tumor * – Denys–Drash syndrome * – WAGR syndrome * – Neurofibromatosis * – neurofibromatosis 1 * –
neurofibromatosis 2 Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, ...
* – Peutz–Jeghers syndrome * – Sturge–Weber syndrome


osteogenesis imperfecta


pain insensitivity, congenital


Romano–Ward syndrome


skin diseases, genetic

* – albinism * – albinism, ocular * – albinism, oculocutaneous * – Hermansky–Pudlak syndrome * – piebaldism * – cutis laxa * – dermatitis, atopic * – dyskeratosis congenita * – ectodermal dysplasia * – Ellis–van Creveld syndrome * – focal dermal hypoplasia * –
neurocutaneous syndromes Phakomatoses, also known neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes. The majority of phakomatoses ar ...
* – Ehlers–Danlos syndrome * – epidermolysis bullosa * – epidermolysis bullosa dystrophica * – epidermolysis bullosa, junctional * – epidermolysis bullosa simplex * – ichthyosiform erythroderma, congenital * – hyperkeratosis, epidermolytic * – ichthyosis, lamellar * – ichthyosis vulgaris * – ichthyosis, x-linked * – incontinentia pigmenti * – keratoderma, palmoplantar * – keratoderma, palmoplantar, diffuse * – Papillon–Lefèvre disease * – keratosis follicularis * – pemphigus, benign familial * –
porokeratosis Porokeratosis is a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent gra ...
* – porphyria, erythropoietic * – porphyrias, hepatic * – coproporphyria, hereditary * – porphyria, acute intermittent * – porphyria cutanea tarda * – porphyria, hepatoerythropoietic * – porphyria, variegate * – protoporphyria, erythropoietic * – pseudoxanthoma elasticum * – Rothmund–Thomson syndrome * – Sjögren–Larsson syndrome * – xeroderma pigmentosum


Werner syndrome


infant, newborn, diseases


amniotic band syndrome


anemia, neonatal

* – fetofetal transfusion * – fetomaternal transfusion


asphyxia neonatorum


birth injuries

* – paralysis, obstetric


cystic fibrosis Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. O ...


epilepsy, benign neonatal


erythroblastosis, fetal

* – kernicterus


hemorrhagic disease of newborn


hernia, umbilical


hydrocephalus

* – Dandy–Walker syndrome


hydrophthalmos Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants and young children. It is sometimes referred to as buphthalmia (plural buphthalmias). It usually appears in the newborn period or the first 3 mo ...


hyperbilirubinemia, neonatal

* – jaundice, neonatal * – jaundice, chronic idiopathic


hyperostosis, cortical, congenital


ichthyosis

* – ichthyosiform erythroderma, congenital * – hyperkeratosis, epidermolytic * – ichthyosis, lamellar * – ichthyosis, x-linked * – Sjögren–Larsson syndrome


infant, premature, diseases

* –
bronchopulmonary dysplasia Bronchopulmonary dysplasia (BPD; part of the spectrum of chronic lung disease of infancy) is a chronic lung disease in which premature infants, usually those who were treated with supplemental oxygen, require long-term oxygen. The alveoli that are ...
* – leukomalacia, periventricular * – respiratory distress syndrome, newborn * – hyaline membrane disease * – retinopathy of prematurity


meconium aspiration syndrome


Möbius syndrome


neonatal abstinence syndrome


nystagmus, congenital


ophthalmia neonatorum Ophthalmia (also called ophthalmitis) is inflammation of the eye. It results in congestion of the eyeball, often eye-watering, redness and swelling, itching and burning, and a general feeling of irritation under the eyelids. Ophthalmia can have d ...


persistent fetal circulation syndrome


persistent hyperinsulinemia hypoglycemia of infancy


Rothmund–Thomson syndrome


sclerema neonatorum


severe combined immunodeficiency


syphilis, congenital


thanatophoric dysplasia Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs. Symptoms and signs Infants with this condition have disproportionately ...


toxoplasmosis, congenital


Wolman disease

---- The list continues at
List of MeSH codes (C17) The following is a partial list of the "C" codes for Medical Subject Headings (MeSH), as defined by the United States National Library of Medicine (NLM). This list continues the information at List of MeSH codes (C16). Codes following these are ...
. {{MeSH codes MeSH C16