Focal facial dermal dysplasia

Preferred Label : Focal facial dermal dysplasia;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0531529;

UMLS CUI

C2936827;

Automatic exact mappings (from CISMeF team)
- Bitemporal forceps marks [HPO term]
- Goltz syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Familial focal facial dermal dysplasia (disorder) [SNOMED CT concept]
- Focal facial dermal dysplasia [ICD-11 More detail]
- Focal facial dermal dysplasia [ORDO Disease]
- Focal facial dermal dysplasia [OMIM phenotypic series]
- Focal facial dermal dysplasia (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial focal facial dermal dysplasia (disorder) [SNOMED CT concept]
- Focal facial dermal dysplasia [ORDO Disease]
- Focal facial dermal dysplasia (disorder) [SNOMED CT concept]
- Focal facial dermal dysplasia 1, brauer type [OMIM Phenotype]
- Focal facial dermal dysplasia type I [ORDO Disease]
Validated automatic mappings to BTNT
- Focal facial dermal dysplasia 1, brauer type [OMIM Phenotype]
- Focal facial dermal dysplasia type I [ORDO Disease]
- Focal facial dermal dysplasia type I (disorder) [SNOMED CT concept]