aandoening van beenmerg	autosomaal dominante hereditaire aandoening	congenitale afwijking van binnenoor	congenitale afwijking van oor met gehoorverlies	congenitale doofheid	hereditaire aandoening van auditief systeem	hereditaire ontwikkelingsstoornis
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autosomaal dominante aplasie en myelodysplasie (aandoening)
	autosomaal dominante aplasie en myelodysplasie
	autosomaal dominante aplastische anemie en myelodysplasie
	Autosomal dominant aplasia and myelodysplasia
	Autosomal dominant aplastic anemia and myelodysplasia
	A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12.

Id	778006008
Status	Primitive

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

Finding site	structuur van beenmerg
Occurrence	congenitaal

Interprets

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D61.0
Term	Constitutionele aplastische anemie

SNOMED CT to Orphanet simple map

314399

SNOMED CT to ICD-10 extended map

Target	D61.0
Rule	TRUE
Advice	ALWAYS D61.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified