X-Linked Dystonia-Parkinsonism

Preferred Label : X-Linked Dystonia-Parkinsonism;

Obsolete resource : true;

NCIt synonyms : XDP; Dystonia 3; DYT3;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the TAF1 gene, encoding transcription initiation factor TFIID subunit 1. It is characterized by torsion dystonia and Parkinsonism.;

NCIt note : See 'X-Linked Dystonia Parkinsonism(C126330)';

Concept status : Retired_Concept;

NCI Metathesaurus CUI : CL937117;

Details

Origin ID

C157505;

UMLS CUI

C1839130;

Automatic exact mappings (from CISMeF team)
- Xeroderma pigmentosum, complementation group D [OMIM Phenotype]
CISMeF manual mappings
- X-linked dystonia-parkinsonism [ORDO Disease]
Currated CISMeF NLP mapping
- Dystonia 3, torsion, X-linked [OMIM Phenotype]
- X-linked dystonia parkinsonism (disorder) [SNOMED CT concept]
- X-linked dystonia-parkinsonism [DO Concept]
- dystonia 3, torsion, X-Linked [MeSH Supplementary Concept]
- dystonia 3, torsion, X-Linked [MeSH concept]
- x linked dystonia parkinsonism [Disease (Nov.)]
False automatic mappings
- Xeroderma pigmentosum D [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 3, torsion, X-linked [OMIM Phenotype]
- X-linked dystonia parkinsonism (disorder) [SNOMED CT concept]
- X-linked dystonia-parkinsonism [DO Concept]
- X-linked dystonia-parkinsonism [ORDO Disease]
- dystonia 3, torsion, X-Linked [MeSH concept]
- dystonia 3, torsion, X-Linked [MeSH Supplementary Concept]
- x linked dystonia parkinsonism [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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