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brachyolmie type 3 (aandoening)
brachyolmie type 3
autosomaal dominante brachyolmie
Autosomal dominant brachyolmia
Brachyolmia type 3
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
Id717264003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ76.4
TermOverige congenitale misvormingen van wervelkolom, niet verband houdend met scoliose
SNOMED CT to Orphanet simple map93304
SNOMED CT to ICD-10 extended map
TargetQ76.4
RuleTRUE
AdviceALWAYS Q76.4
CorrelationSNOMED CT source code to target map code correlation not specified