microcephaly deafness syndrome

Preferred Label : microcephaly deafness syndrome;

CISMeF synonym : syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies;

MeSH synonym : kawashima tsuji syndrome; Microcephaly-Deafness syndrome; Syndrome of microcephaly, deafness-malformed ears, mental retardation and peculiar facies;

Details

Origin ID

C537326;

UMLS CUI

C0796062;

Automatic exact mappings (from CISMeF team)
- Microcephaly with deafness and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Microcephaly-deafness syndrome [OMIM Phenotype]
- Microcephaly-deafness-intellectual disability syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Deafness [HPO term]
- Low-set, cup-shaped ears [HPO term]
- Protruding lower lip [HPO term]
MeSH term(s) associated for indexing
- deafness [MeSH Descriptor]
- ear [MeSH Descriptor]
- facies [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
Record concept(s)
- Microcephaly deafness syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly with deafness and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Microcephaly-deafness syndrome [OMIM Phenotype]
- Microcephaly-deafness-intellectual disability syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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