Brain Iron Accumulation Type I Syndrome

Preferred Label : Brain Iron Accumulation Type I Syndrome;

NCIt synonyms : NBIA 1; Hallervorden-Spatz Syndrome;

NCIt related terms : Hallervorden-Spatz disease;

NCIt definition : A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition, Lewy body (LB)-like intraneuronal inclusions and neurofibrillary tangles.;

Codes from synonyms : G23.0;

Details

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
- mCode Elixhauser Neurological Movement Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PANK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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