microcephaly autosomal dominant

Preferred Label : microcephaly autosomal dominant;

MeSH synonym : microcephaly with autosomal dominant inheritance; microcephaly, autosomal dominant;

Details

Origin ID

C537323;

UMLS CUI

C0220693;

Currated CISMeF NLP mapping
- Autosomal dominant primary microcephaly [ORDO Disease]
- Autosomal dominant primary microcephaly (disorder) [SNOMED CT concept]
- Microcephaly, autosomal dominant [OMIM Phenotype]
- autosomal dominant microcephaly [DO Concept]
DO Cross reference
- autosomal dominant microcephaly [DO Concept]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
- Prominent ears [HPO term]
- Receding, small forehead [HPO term]
MeSH term(s) associated for indexing
- microcephaly [MeSH Descriptor]
ORDO relation(s)
- Autosomal dominant primary microcephaly [ORDO Disease]
Record concept(s)
- Microcephaly autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant primary microcephaly [ORDO Disease]
- Microcephaly, autosomal dominant [OMIM Phenotype]
- autosomal dominant microcephaly [DO Concept]

Keyword's position in hierarchy(ies) :

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