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Browse canonical concepts by label, domain, node type, prefix and encoded class.
Current membership scope: Any direct membership
| Concept | Node type | Base domain | Matched membership | Identifier |
|---|---|---|---|---|
| Fibrous Dysplasia, Polyostotic FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are addition… | Pathologic Condition | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050049 |
| Focal Dermal Hypoplasia A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and tran… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050021 |
| Fraser Syndrome Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies … | Syndrome | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050030 |
| Funnel Chest A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050033 |
| Gastroschisis A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike … | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050326 |
| Gigantism The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPI… | Metabolic Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050034 |
| Goldenhar Syndrome Mandibulofacial dysostosis with congenital eyelid dermoids. | Syndrome | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050020 |
| Hemimegalencephaly Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partia… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050316 |
| Hernia, Umbilical A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, cough… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:160164 |
| Hip Dislocation, Congenital Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral h… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050325 |
| Holoprosencephaly Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and clea… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050312 |
| Hyperbilirubinemia, Neonatal Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:160165 |
| Hyperostosis Frontalis Interna Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menop… | Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050051 |
| Hyperostosis, Cortical, Congenital A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remissio… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050050 |
| Ichthyosis Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Mo… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:160042 |
| Infant, Newborn, Diseases Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not … | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:160158 |
| Infant, Premature, Diseases Diseases that occur in PREMATURE INFANTS. | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:160167 |
| Jaundice, Chronic Idiopathic A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:160107 |
| Jaundice, Neonatal Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient s… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:160166 |
| Kashin-Beck Disease Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and n… | Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050052 |
| Klippel-Feil Syndrome A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae … | Syndrome | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050022 |
| Langer-Giedion Syndrome Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abn… | Syndrome | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050053 |
| Laryngomalacia A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making paten… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050138 |
| Limb Deformities, Congenital Congenital structural deformities of the upper and lower extremities collectively or unspecified. | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050327 |
| Lower Extremity Deformities, Congenital Congenital structural abnormalities of the LOWER EXTREMITY. | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050331 |
| Mandibulofacial Dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COL… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050019 |
| Megalencephaly A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is ass… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050315 |
| Melorheostosis A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs. | Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050056 |
| Microcephaly A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Referen… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050319 |
| Muscular Dystrophy, Duchenne An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcole… | Congenital Disorder | Pathology | Paediatrics [curated_secondary] | AMW:DIS:050269 |