Friedreich Ataxia

Preferred Label : Friedreich Ataxia;

NCIt synonyms : Friedreich's Ataxia;

NCIt definition : An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.;

Codes from synonyms : G11.11;

Details

Origin ID

C84718;

UMLS CUI

C0016719;

Automatic exact mappings (from CISMeF team)
- ataxia friedreich [medical devices type]
- friedreich's ataxia [EMDN type]
Currated CISMeF NLP mapping
- Friedreich ataxia [OMIM Phenotype]
- Friedreich ataxia [Radlex concept]
- Friedreich ataxia [ACR pathology]
- Friedreich ataxia [Disease (Nov.)]
- Friedreich ataxia [PASCAL descriptor]
- Friedreich ataxia [DO Concept]
- Friedreich ataxia [ICD-11 Sub-sub category]
- Friedreich ataxia [ORDO Disease]
- Friedreich ataxia (disorder) [SNOMED CT concept]
- Friedreich's ataxia [ICD-9 code]
- Friedreich's ataxia [MedDRA Preferred Term]
- friedreich ataxia [MeSH Descriptor]
- friedreich ataxia [MeSH concept]
- friedreich's ataxia [MedlinePlus Topic]
- friedreich's ataxia [SNOMED Notion]
DO Cross reference
- Friedreich ataxia [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Friedreich ataxia [ORDO Disease]
- Friedreich ataxia [Radlex concept]
- Friedreich ataxia [DO Concept]
- Friedreich ataxia [Disease (Nov.)]
- Friedreich ataxia [OMIM Phenotype]
- Friedreich ataxia (disorder) [SNOMED CT concept]
- Friedreich's ataxia [ICD-9 code]
- Friedreich's ataxia [MedDRA Preferred Term]
- friedreich ataxia [MeSH concept]
- friedreich ataxia [MeSH Descriptor]
- friedreich's ataxia [MedlinePlus Topic]
- friedreich's ataxia [SNOMED Notion]
Validated automatic mappings to BTNT
- friedreich ataxia 1 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- mCode Elixhauser Neurological Movement Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FXN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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