Machado-Joseph disease type 1

Preferred Label : Machado-Joseph disease type 1;

ICD-11 definition : Machado-Joseph disease type 1 is a rare, usually severe subtype of the cerebellar ataxia called Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs. T;

Détails

Origin ID

1094680019;

UMLS CUI

C0686349;

CISMeF manual mappings
- Azorean disease, type I (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Machado-Joseph disease type 1 [ORDO Disease]
- azorean disease, type i [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Azorean disease, type I (disorder) [SNOMED CT concept]
- azorean disease, type i [SNOMED Notion]
Validated automatic mappings to NTBT
- Azorean disease (disorder) [SNOMED CT concept]
- Machado Joseph disease [Disease (Nov.)]
- Machado-Joseph disease [MeSH concept]
- Machado-Joseph disease [Radlex concept]
- Machado-Joseph disease [DO Concept]
- Machado-joseph disease [OMIM Phenotype]
- Spinocerebellar Ataxia Type 3 [NCIt concept]
- azorean disease, nos [SNOMED Notion]
- machado-joseph disease [MeSH Descriptor]

Position du mot-clé dans l'(les) arborescence(s) :

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