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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.
Id778006008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van binnenoor
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van beenmerg
Occurrencecongenitaal
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified