friedreich ataxia

Preferred Label : friedreich ataxia;

MeSH definition : An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75);

MeSH synonym : ataxias, friedreich's hereditary; hereditary spinal scleroses; disease, friedreich's; spinal sclerosis, hereditary; friedreichs hereditary ataxia; friedreich disease; friedreich's familial ataxia; friedreichs familial ataxia; friedreich's hereditary ataxias; friedreich hereditary spinal ataxia; friedreich's ataxia; friedreich ataxias; ataxia, friedreich hereditary; hereditary spinal ataxia, friedreich; friedreich's disease; hereditary spinal ataxia, friedreich's; ataxias, friedreich; ataxia, friedreich's; spinal scleroses, hereditary; ataxia, friedreich's hereditary; sclerosis, hereditary spinal; ataxia, friedreich; hereditary ataxia, friedreich; friedreich's hereditary ataxia; scleroses, hereditary spinal; ataxia, friedreich spinocerebellar; spinocerebellar ataxia, friedreich; ataxia, friedreich's familial; familial ataxia, friedreich's; friedreich's hereditary spinal ataxia; hereditary spinal sclerosis; friedreich familial ataxia; ataxia, friedreich familial; familial ataxia, friedreich; friedreich hereditary ataxia; friedreich spinocerebellar ataxia; hereditary ataxia, friedreich's; hereditary ataxias, friedreich's; disease, friedreich;

Wikipedia link : https://en.wikipedia.org/wiki/Friedreich ataxia;

Details

Origin ID

D005621;

UMLS CUI

C0016719;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Hemifacial hypertrophy [HPO term]
- ataxia friedreich [medical devices type]
- friedreich's ataxia [EMDN type]
Currated CISMeF NLP mapping
- Friedreich Ataxia [NCIt concept]
- Friedreich ataxia [Disease (Nov.)]
- Friedreich ataxia [PASCAL descriptor]
- Friedreich ataxia [DO Concept]
- Friedreich ataxia [ICD-11 Sub-sub category]
- Friedreich ataxia [ACR pathology]
- Friedreich ataxia [Radlex concept]
- Friedreich ataxia [ORDO Disease]
- Friedreich ataxia [OMIM Phenotype]
- Friedreich ataxia (disorder) [SNOMED CT concept]
- Friedreich's ataxia [ICD-9 code]
- Friedreich's ataxia [MedDRA Preferred Term]
- friedreich's ataxia [SNOMED Notion]
- friedreich's ataxia [MedlinePlus Topic]
DO Cross reference
- Friedreich ataxia [DO Concept]
HPO term
- Hemifacial hypertrophy [HPO term]
Indexing information
- APBA1 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Autosomal recessive degenerative and progressive cerebellar ataxia [ORDO Disease]
- Cerebellar ataxia with peripheral neuropathy [ORDO Disease]
- Early-onset ataxia with dementia [ORDO Disease]
- Hereditary iron overload with neurologic manifestation [ORDO Disease]
- Neurodegenerative disease with dementia [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare dementia [ORDO Disease]
- Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly [ORDO Disease]
- Syndrome associated with hypertrophic cardiomyopathy [ORDO Disease]
MedlinePlus topic(s)
- friedreich's ataxia [MedlinePlus Topic]
ORDO relation(s)
- Friedreich ataxia [ORDO Disease]
Record concept(s)
- friedreich ataxia [MeSH concept]
Related MeSH Supplementary Concept(s)
- Charcot-Marie-Tooth peroneal muscular atrophy and friedreich ataxia, combined [MeSH Supplementary Concept]
- friedreich ataxia 1 [MeSH Supplementary Concept]
- friedreich ataxia 2 [MeSH Supplementary Concept]
- friedreich ataxia congenital glaucoma [MeSH Supplementary Concept]
- friedreich ataxia with retained reflexes [MeSH Supplementary Concept]
- friedreich ataxia, So-Called, with optic atrophy and sensorineural deafness [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Friedreich Ataxia [NCIt 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's ataxia [SNOMED Notion]
- friedreich's ataxia [MedlinePlus Topic]

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