Idiopathic Basal Ganglia Calcification 1

Preferred Label : Idiopathic Basal Ganglia Calcification 1;

NCIt synonyms : IBGC1; BSPDC; Bilateral Striopallidodentate Calcinosis;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia.;

Details

Origin ID

C129973;

UMLS CUI

C4551624;

Currated CISMeF NLP mapping
- Basal ganglia calcification, idiopathic, 1 [OMIM Phenotype]
- Bilateral striopallidodentate calcinosis [ORDO Disease]
- Bilateral striopallidodentate calcinosis [ICD-11 More detail]
- Fahr syndrome [Radlex concept]
- Fahr syndrome [PASCAL descriptor]
- Fahr's disease [MeSH concept]
- Fahr's disease [MeSH Supplementary Concept]
- Fahr's disease [MedDRA LLT]
- Fahr's syndrome (disorder) [SNOMED CT concept]
- fahr's disease [MedDRA Preferred Term]
- idiopathic basal ganglia calcification [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Basal ganglia calcification, idiopathic, 1 [OMIM Phenotype]
- Fahr's disease [MeSH Supplementary Concept]
- Primary familial brain calcification [MedDRA Preferred Term]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC20A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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