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atelosteogenese type 1 (aandoening)
atelosteogenese type 1
reuzencelchondrodysplasie
atelosteogenesis type 1
Atelosteogenesis type 1
Giant cell chondrodysplasia
Atelosteogenesis type I
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Id725141006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1190
SNOMED CT to ICD-10 extended map
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified