woodhouse sakati syndrome

Preferred Label : woodhouse sakati syndrome;

MeSH note : Hypogonadism, diabetes mellitus, alopecia, mental retardation, extrapyramidal syndrome, and electrocardiographic abnormalities;

MeSH synonym : Woodhouse-Sakati syndrome; extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia; hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome;

Details

Origin ID

C536742;

UMLS CUI

C0342286;

Automatic exact mappings (from CISMeF team)
- DDB1 and CUL4 associated factor 17 [ORDO Gene]
- DDB1 and CUL4 associated factor 17 [HGNC gene]
CISMeF manual mappings
- Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Woodhouse Sakati syndrome [Disease (Nov.)]
- Woodhouse-Sakati syndrome [ICD-11 More detail]
- Woodhouse-Sakati syndrome [MedDRA Preferred Term]
- Woodhouse-Sakati syndrome [DO Concept]
- Woodhouse-Sakati syndrome [ORDO Disease]
- Woodhouse-sakati syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- arrhythmias, cardiac [MeSH Descriptor]
- basal ganglia diseases [MeSH Descriptor]
- diabetes mellitus [MeSH Descriptor]
- hypogonadism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Woodhouse-Sakati syndrome [ORDO Disease]
Record concept(s)
- Woodhouse Sakati syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder) [SNOMED CT concept]
- Woodhouse Sakati syndrome [Disease (Nov.)]
- Woodhouse-Sakati syndrome [ORDO Disease]
- Woodhouse-Sakati syndrome [MedDRA Preferred Term]
- Woodhouse-sakati syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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