autosomaal recessieve hereditaire aandoening
glomerulonefritis
hereditaire aandoening van bewegingsapparaat
hereditaire aandoening van immuunsysteem
hereditaire nefropathie
hereditaire ontwikkelingsstoornis
immuno-ossale dysplasie
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immuno-ossale dysplasie van Schimke (aandoening)
immuno-ossale dysplasie van Schimke
syndroom van Schimke
Schimke immuno-osseous dysplasia
Schimke immunoosseous dysplasia
Schimke syndrome
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.
Id723995003
StatusPrimitive
Associated morphologyinflammatoire morfologie
Finding sitestructuur van glomerulus
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Occurrencecongenitaal
Pathological processafwijkend immuunproces
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 map1830
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