Pantothenate Kinase-Associated Neurodegeneration

Preferred Label : Pantothenate Kinase-Associated Neurodegeneration;

Obsolete resource : true;

NCIt synonyms : PKAN Neuroaxonal Dystrophy, Juvenile-Onset; Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration Syndrome; NBIA1; Neuroaxonal Dystrophy, Late Infantile; HARP Syndrome; Hallervorden-Spatz Disease;

NCIt related terms : Pigmentary pallidal degeneration;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes.;

NCIt note : See 'Brain Iron Accumulation Type I Syndrome(C8967)';

Concept status : Retired_Concept;

NCI Metathesaurus CUI : CL449044;

Détails

Origin ID

C84988;

UMLS CUI

C0018523;

Automatic exact mappings (from CISMeF team)
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pantothenate-kinase-associated neurodegeneration [ICD-11 More detail]
- pantothenate kinase 2 [HGNC gene]
- pantothenate kinase 2 [ORDO Gene]
- pantothenate kinase-associated neurodegeneration [DO Concept]
Currated CISMeF NLP mapping
- Hallervorden Spatz syndrome [Disease (Nov.)]
- Hallervorden-Spatz disease [ICD-10 Sub-category]
- Hallervorden-Spatz disease [ICD-10 Sub-category (who)]
- Neurodegeneration with brain iron accumulation 1 [OMIM Phenotype]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pigmentary pallidal degeneration (disorder) [SNOMED CT concept]
- pantothenate Kinase-Associated neurodegeneration [MeSH concept]
- pantothenate kinase-associated neurodegeneration [MeSH Descriptor]
- pigmentary pallidal degeneration [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hallervorden Spatz disease [PASCAL descriptor]
- Hallervorden Spatz syndrome [Disease (Nov.)]
- Hallervorden-Spatz disease [ICD-10 Sub-category]
- Hallervorden-Spatz disease [ICD-10 Sub-category (who)]
- Neurodegeneration with brain iron accumulation 1 [OMIM Phenotype]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pigmentary pallidal degeneration (disorder) [SNOMED CT concept]
- pantothenate Kinase-Associated neurodegeneration [MeSH concept]
- pantothenate kinase-associated neurodegeneration [DO Concept]
- pantothenate kinase-associated neurodegeneration [MeSH Descriptor]
- pigmentary pallidal degeneration [SNOMED Notion]

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

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