Tsjechische dysplasie metatarsaal type (aandoening)
Tsjechische dysplasie metatarsaal type
Czech dysplasia metatarsal type
A form of skeletal dysplasia with characteristics of severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. So far, less than 20 patients have been reported, including multiple members of five families from the Czech Republic. Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces. Mutations in the COL2A1 gene have been detected in several of the reported patients. Transmission is autosomal dominant.
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
TermSpondylo-epifysaire dysplasie
SNOMED CT to Orphanet simple map137678
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified