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autosomaal recessieve brachyolmie (aandoening)
autosomaal recessieve brachyolmie
Autosomal recessive brachyolmia
Brachyolmia Hobaek/Toledo type
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.
Id783789002
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map448242
SNOMED CT to ICD-10 extended map
TargetQ76.3
RuleTRUE
AdviceALWAYS Q76.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified