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spondylocamptodactylie-syndroom (aandoening)
spondylocamptodactylie-syndroom
Spondylocamptodactyly syndrome
Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance.
Id716231009
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
TargetQ77.8
TermOverige gespecificeerde vormen van osteochondrodysplasie met groeistoornissen van pijpbeenderen en wervelkolom
SNOMED CT to Orphanet simple map3180
SNOMED CT to ICD-10 extended map
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified