autosomaal recessieve hereditaire aandoening	bilaterale congenitale afwijking van uitwendig oor	congenitale afwijking van oor met gehoorverlies	hereditaire aandoening van auditief systeem	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen	microtie	palatoschisis
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syndroom van bilaterale microtie, doofheid en gespleten gehemelte (aandoening)
	syndroom van bilaterale microtie, doofheid en gespleten gehemelte
	Bilateral microtia with deafness and cleft palate syndrome
	Syndrome with the association of bilateral microtia, severe to profound hearing impairment and cleft palate. It has been described in four individuals from a consanguineous Iranian family. The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice.

Id	717909004
Status	Primitive

Interprets

Associated morphology	congenitale kleinheid
Finding site	structuur van linker uitwendig oor
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	fusiedefect
Finding site	structuur van palatum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	congenitale kleinheid
Finding site	structuur van rechter uitwendig oor
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

140963

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