Neurodegeneration with Brain Iron Accumulation 1

Preferred Label : Neurodegeneration with Brain Iron Accumulation 1;

NCIt synonyms : NBIA 1; Hallervorden-Spatz Syndrome; PKAN Neuroaxonal Dystrophy, Juvenile-Onset; Pantothenate Kinase-Associated Neurodegeneration; Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration Syndrome; NBIA1; Neuroaxonal Dystrophy, Late Infantile; HARP Syndrome; Brain Iron Accumulation Type I Syndrome;

NCIt related terms : Hallervorden-Spatz disease; 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.;

NCI Metathesaurus CUI : CL449044;

Codes from synonyms : G23.0;

Détails

Origin ID

C8967;

UMLS CUI

C0018523;

Automatic exact mappings (from CISMeF team)
- Pantothenate-kinase-associated neurodegeneration [ICD-11 More detail]
- pantothenate kinase 2 [ORDO Gene]
- pantothenate kinase 2 [HGNC gene]
- pantothenate kinase-associated neurodegeneration [DO Concept]
Currated CISMeF NLP mapping
- Hallervorden-Spatz disease [ICD-10 Sub-category (who)]
- Hallervorden-Spatz disease [ICD-10 Sub-category]
- 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]
DO Cross reference
- pantothenate kinase-associated neurodegeneration [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Hallervorden Spatz syndrome [Disease (Nov.)]
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 [MeSH Descriptor]
- pantothenate kinase-associated neurodegeneration [DO Concept]
- pigmentary pallidal degeneration [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- mCode Elixhauser Neurological Movement Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- PANK2 Gene [NCIt concept]

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

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