schaap taylor baraitser syndrome

Preferred Label : schaap taylor baraitser syndrome;

MeSH synonym : cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature;

Details

Origin ID

C536626;

UMLS CUI

C2931269;

Automatic exact mappings (from CISMeF team)
- Cataract - deafness - hypogonadism [ICD-11 More detail]
Currated CISMeF NLP mapping
- Cataract-deafness-hypogonadism syndrome [ORDO Disease]
- Congenital cataract with deafness and hypogonadism syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- hypertrichosis [MeSH Descriptor]
Record concept(s)
- Schaap Taylor Baraitser syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract-deafness-hypogonadism syndrome [ORDO Disease]
- Congenital cataract with deafness and hypogonadism syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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