arts syndrome - CISMeF

Preferred Label : arts syndrome;

MeSH synonym : X-linked fatal ataxia with deafness and loss of vision; ataxia, fatal X-Linked, with deafness and loss of vision; Ataxia-Deafness-Optic atrophy, lethal;

Details

Origin ID

C535388;

UMLS CUI

C0796028;

Automatic exact mappings (from CISMeF team)
- Antiretroviral therapy [LOINC Class]
Currated CISMeF NLP mapping
- Arts syndrome [DO Concept]
- Arts syndrome [Disease (Nov.)]
- Arts syndrome [OMIM Phenotype]
- Fatal X-linked ataxia with deafness and loss of vision (disorder) [SNOMED CT concept]
- Lethal ataxia with deafness and optic atrophy [ICD-11 More detail]
- Lethal ataxia with deafness and optic atrophy [ORDO Disease]
DO Cross reference
- Arts syndrome [DO Concept]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- deaf-blind disorders [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
ORDO relation(s)
- Lethal ataxia with deafness and optic atrophy [ORDO Disease]
Record concept(s)
- Arts syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arts syndrome [OMIM Phenotype]
- Arts syndrome [DO Concept]
- Arts syndrome [Disease (Nov.)]
- Fatal X-linked ataxia with deafness and loss of vision (disorder) [SNOMED CT concept]
- Lethal ataxia with deafness and optic atrophy [ORDO Disease]
- Lethal ataxia with deafness and optic atrophy [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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