neuroferritinopathy

Preferred Label : neuroferritinopathy;

MeSH note : also known as NBIA3;

MeSH synonym : neurodegeneration with brain iron accumulation 3; basal ganglia disease, Adult-Onset; hereditary ferritinopathy; Ferritin-Related neurodegeneration; NBIA3;

Details

Origin ID

C548080;

UMLS CUI

C1853578;

Automatic exact mappings (from CISMeF team)
- Chorea due to neuroferritinopathy [ICD-11 More detail]
- ferritin light chain [ORDO Gene]
- ferritin light chain [HGNC gene]
Currated CISMeF NLP mapping
- Neurodegeneration with brain iron accumulation 3 [OMIM Phenotype]
- Neuroferritinopathy [ORDO Disease]
- Neuroferritinopathy (disorder) [SNOMED CT concept]
- neurodegeneration with brain iron accumulation 3 [DO Concept]
- neuroferritinopathy [Disease (Nov.)]
DO Cross reference
- neurodegeneration with brain iron accumulation 3 [DO Concept]
MeSH term(s) associated for indexing
- iron metabolism disorders [MeSH Descriptor]
- neuroaxonal dystrophies [MeSH Descriptor]
ORDO relation(s)
- Neuroferritinopathy [ORDO Disease]
Record concept(s)
- Neuroferritinopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurodegeneration with brain iron accumulation 3 [OMIM Phenotype]
- Neuroferritinopathy [ORDO Disease]
- Neuroferritinopathy (disorder) [SNOMED CT concept]
- neurodegeneration with brain iron accumulation 3 [DO Concept]
- neuroferritinopathy [Disease (Nov.)]

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