hypertrichosis congenital generalized X-linked

Preferred Label : hypertrichosis congenital generalized X-linked;

MeSH synonym : Macias-Flores Garcia-Cruz rivera syndrome; hypertrichosis, congenital generalized;

Details

Origin ID

C538388;

UMLS CUI

C1855900;

Automatic exact mappings (from CISMeF team)
- Congenital generalized hypertrichosis (disorder) [SNOMED CT concept]
- Congenital, generalized hypertrichosis [HPO term]
- Hypertrichosis universalis congenita, ambras type [OMIM Phenotype]
Currated CISMeF NLP mapping
- Hypertrichosis, congenital generalized [OMIM Phenotype]
- X-linked congenital generalized hypertrichosis [ORDO Disease]
- X-linked congenital generalized hypertrichosis (disorder) [SNOMED CT concept]
HPO term
- Congenital, generalized hypertrichosis [HPO term]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- hypertrichosis [MeSH Descriptor]
ORDO relation(s)
- X-linked congenital generalized hypertrichosis [ORDO Disease]
Record concept(s)
- Hypertrichosis congenital generalized X-linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital generalized hypertrichosis (disorder) [SNOMED CT concept]
- Congenital, generalized hypertrichosis [HPO term]
- Hypertrichosis, congenital generalized [OMIM Phenotype]
- X-linked congenital generalized hypertrichosis (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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