chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism

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

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0566150;

UMLS CUI

C1859093;

Currated CISMeF NLP mapping
- 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]
Related record
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism [MeSH Supplementary 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) :

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