autosomal recessive primary microcephaly

Preferred Label : autosomal recessive primary microcephaly;

MeSH synonym : primary autosomal recessive microcephaly; true microcephaly; microcephaly primary hereditary;

Is substance : O;

Details

Origin ID

C579935;

UMLS CUI

C3711387;

Automatic exact mappings (from CISMeF team)
- primary microcephaly [DO Concept]
CISMeF manual mappings
- Autosomal recessive primary microcephaly (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal recessive primary microcephaly [ORDO Disease]
- Microcephaly, primary [OMIM phenotypic series]
- primary autosomal recessive microcephaly [DO Concept]
MeSH term(s) associated for indexing
- microcephaly [MeSH Descriptor]
Record concept(s)
- autosomal recessive primary microcephaly [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive primary microcephaly [ORDO Disease]
- Autosomal recessive primary microcephaly (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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