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chondrodysplasie met gewrichtsluxaties van gPAPP-type (aandoening)
chondrodysplasie met gewrichtsluxaties van gPAPP-type
Chondrodysplasia with joint dislocations gPAPP type
A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.
Id782882009
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
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 map280586
SNOMED CT to ICD-10 extended map
TargetM85.09
RuleTRUE
AdviceALWAYS M85.09 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified