Familial Digital Arthropathy-Brachydactyly

Preferred Label : Familial Digital Arthropathy-Brachydactyly;

NCIt synonyms : FDAB;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by interphalangeal, metacarpophalangeal, and metatarsophalangeal joint deformity and painful osteoarthritis becoming apparent during the first decade of life.;

Details

Origin ID

C175208;

UMLS CUI

C1847406;

Currated CISMeF NLP mapping
- Digital arthropathy-brachydactyly, familial [OMIM Phenotype]
- Familial digital arthropathy - brachydactyly [ICD-11 More detail]
- Familial digital arthropathy and brachydactyly syndrome (disorder) [SNOMED CT concept]
- Familial digital arthropathy-brachydactyly [ORDO Disease]
- digital Arthropathy-Brachydactyly, familial [MeSH concept]
- digital Arthropathy-Brachydactyly, familial [MeSH Supplementary Concept]
- familial digital arthropathy brachydactyly [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Digital arthropathy-brachydactyly, familial [OMIM Phenotype]
- digital Arthropathy-Brachydactyly, familial [MeSH Supplementary Concept]
- digital Arthropathy-Brachydactyly, familial [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TRPV4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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