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spondylometafysaire dysplasie type A4 (aandoening)
spondylometafysaire dysplasie type A4
Spondylometaphyseal dysplasia A4 type
A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.
Id782912001
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 map168555
SNOMED CT to ICD-10 extended map
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified