autosomaal recessieve hereditaire aandoening	brachydactylie	dysostose	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	kleine gestalte	retinadegeneratie
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syndroom van brachydactylie, kleine gestalte en retinitis pigmentosa (aandoening)
	syndroom van brachydactylie, kleine gestalte en retinitis pigmentosa
	Brachydactyly, short stature, retinitis pigmentosa syndrome
	Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.

Id	782914000
Status	Primitive

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

Associated morphology	abnormaal korte groei
Finding site	structuur van digitus van hand of voet
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	degeneratieve afwijking
Finding site	structuur van retina

Has interpretation	onder referentiebereik
Interprets	Body height

SNOMED CT to Orphanet simple map

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified