ayazi syndrome

Preferred Label : ayazi syndrome;

MeSH synonym : choroideremia deafness obesity; choroideremia, obesity, and congenital deafness; choroideremia with deafness and obesity;

Details

Origin ID

C537793;

UMLS CUI

C1844836;

Automatic exact mappings (from CISMeF team)
- Choroideremia - deafness - obesity [ICD-11 More detail]
Currated CISMeF NLP mapping
- Choroideremia with deafness and obesity syndrome (disorder) [SNOMED CT concept]
- Chromosome xq21 deletion syndrome [OMIM Phenotype]
- Xq21 microdeletion syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- choroideremia [MeSH Descriptor]
- deafness [MeSH Descriptor]
- obesity [MeSH Descriptor]
Record concept(s)
- Ayazi syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Choroideremia with deafness and obesity syndrome (disorder) [SNOMED CT concept]
- Xq21 microdeletion syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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