autosomaal recessieve hereditaire aandoening	spondylo-epifysaire dysplasie tarda	verstandelijke beperking
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spondylo-epifysaire dysplasie tarda Kohn-type (aandoening)
	spondylo-epifysaire dysplasie tarda Kohn-type
	Spondyloepiphyseal dysplasia tarda Kohn type
	Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.

Id	719202006
Status	Primitive

Associated morphology	dysplasie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

meetbare observatie betreffende lengte en/of groei

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q77.7
Term	Spondylo-epifysaire dysplasie

SNOMED CT to Orphanet simple map

163665

SNOMED CT to ICD-10 extended map

Target	Q77.7
Rule	TRUE
Advice	ALWAYS Q77.7 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified