autosomaal recessieve hereditaire aandoening
hereditaire aandoening van bewegingsapparaat
hereditaire ontwikkelingsstoornis
spondylo-epimetafysaire dysplasie
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spondylo-epimetafysaire dysplasie type aggrecan (aandoening)
spondylo-epimetafysaire dysplasie type aggrecan
Spondyloepimetaphyseal dysplasia aggrecan type
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Id719165004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsmeetbare observatie betreffende lengte en/of groei
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.7
TermSpondylo-epifysaire dysplasie
SNOMED CT to Orphanet simple map171866
SNOMED CT to ICD-10 extended map
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified