Focal Dermal Hypoplasia

Preferred Label : Focal Dermal Hypoplasia;

NCIt definition : A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations.;

Details

Origin ID

C84715;

UMLS CUI

C0016395;

Automatic exact mappings (from CISMeF team)
- Focal dermal hypoplasia [PASCAL descriptor]
- Focal dermal hypoplasia [ICD-11 More detail]
- focal dermal hypoplasia [DO Concept]
DO Cross reference
- focal dermal hypoplasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Focal dermal hypoplasia [ORDO Disease]
- Focal dermal hypoplasia [OMIM Phenotype]
- Focal dermal hypoplasia (disorder) [SNOMED CT concept]
- Goltz syndrome (disorder) [SNOMED CT concept]
- focal dermal hypoplasia [DO Concept]
- focal dermal hypoplasia [MeSH concept]
- focal dermal hypoplasia [MeSH Descriptor]
- focal dermal hypoplasia disorder [Disease (Nov.)]
- goltz syndrome [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PORCN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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