spondylo-epifysaire dysplasie met congenitale gewrichtsluxaties
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'carbohydrate sulfotransferase 3'-gerelateerde skeletdysplasie (aandoening)
'carbohydrate sulfotransferase 3'-gerelateerde skeletdysplasie
CHST3-gerelateerde skeletdysplasie
CHST3-related skeletal dysplasia
Spondyloepiphyseal dysplasia with congenital joint dyslocations CHST3 type
Carbohydrate sulfotransferase 3 related skeletal dysplasia
A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
Id725417001
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyluxatie
Finding sitestructuur van gewricht van meerdere lichaamsregio's
Clinical courseprogressief
Due tospontane gebeurtenis
Interpretsmeetbare observatie betreffende lengte en/of groei
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ74.8
TermOverige gespecificeerde congenitale misvormingen van extremiteit(en)
SNOMED CT to Orphanet simple map263463
SNOMED CT to ICD-10 extended map
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified