aandoening van oor	congenitale afwijking van aangezicht	congenitale afwijking van extremiteit	hereditaire aandoening van auditief systeem	otopalatodigitaal syndroom-spectrumstoornis	palatoschisis
\|	\|	\|	\|	\|	\|

otopalatodigitaal syndroom type 2 (aandoening)
	otopalatodigitaal syndroom type 2
	OPD-syndroom type 2 OPD2
	Oto-palato-digital syndrome, type II
	Otopalatodigital syndrome type 2
	A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

Id	42432003
Status	Primitive

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

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	structuur van palatum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site	structuur van oor
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to Orphanet simple map

90652

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified