chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism

Preferred Label : chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism;

MeSH synonym : Boucher-Neuhauser syndrome;

Details

Origin ID

C565850;

UMLS CUI

C1859093;

CISMeF manual mappings
- Ataxia-hypogonadism-choroidal dystrophy syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Boucher-Neuhauser syndrome [DO Concept]
- Boucher-neuhauser syndrome [OMIM Phenotype]
- Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Boucher-Neuhauser syndrome [DO Concept]
MeSH term(s) associated for indexing
- hypogonadism [MeSH Descriptor]
- retinal dystrophies [MeSH Descriptor]
- spinocerebellar ataxias [MeSH Descriptor]
Record concept(s)
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-hypogonadism-choroidal dystrophy syndrome [ORDO Disease]
- Boucher-Neuhauser syndrome [DO Concept]
- Boucher-neuhauser syndrome [OMIM Phenotype]
- Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

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