brachyolmie type 3 (aandoening)
brachyolmie type 3
autosomaal dominante brachyolmie
Autosomal dominant brachyolmia
Brachyolmia type 3
A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige congenitale misvormingen van wervelkolom, niet verband houdend met scoliose
SNOMED CT to Orphanet simple map93304
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q76.4
CorrelationSNOMED CT source code to target map code correlation not specified