Spastic Paraplegia 35

Preferred Label : Spastic Paraplegia 35;

NCIt synonyms : SPG35; Fatty Acid Hydroxylase-Associated Neurodegeneration; FAHN; Spastic Paraplegia 35, Autosomal Recessive, with or without Neurodegeneration;

NCIt definition : An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the FA2H gene, encoding fatty acid 2-hydroxylase.;

Details

Origin ID

C188989;

UMLS CUI

C3668943;

Automatic exact mappings (from CISMeF team)
- Fatty acid hydroxylase associated neurodegeneration (disorder) [SNOMED CT concept]
- Fatty acid hydroxylase-associated neurodegeneration [ORDO Disease]
- fatty acid Hydroxylase-Associated neurodegeneration [MeSH concept]
- fatty acid Hydroxylase-Associated neurodegeneration [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 35 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 35 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 35 (disorder) [SNOMED CT concept]
- Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration [OMIM Phenotype]
- hereditary spastic paraplegia 35 [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)
- Fatty acid hydroxylase associated neurodegeneration (disorder) [SNOMED CT concept]
- fatty acid Hydroxylase-Associated neurodegeneration [MeSH Supplementary Concept]
- fatty acid Hydroxylase-Associated neurodegeneration [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- FA2H Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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