autosomaal recessieve hereditaire aandoening	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk	schisis van mandibula	sequentie van Robin
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syndroom van kleine gestalte, Pierre Robin-sequentie, gespleten onderkaak, misvormingen van hand en klompvoet (aandoening)
	syndroom van kleine gestalte, Pierre Robin-sequentie, gespleten onderkaak, misvormingen van hand en klompvoet
	syndroom van Richieri Costa-Pereira
	Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
	Robin sequence with cleft mandible and limb anomalies syndrome Richieri Costa Pereira syndrome
	Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

Id	723998001
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	fusiedefect door stoornis in ontwikkeling
Finding site	botstructuur van mandibula
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

3102

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