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syndroom van doofheid, vitiligo en achalasie (aandoening)
syndroom van doofheid, vitiligo en achalasie
Deafness, vitiligo, achalasia syndrome
Syndrome with the association of congenital deafness, short stature, vitiligo, muscle wasting, and achalasia. It has been described in a brother and his sister born to first-cousin parents. It is likely to be transmitted as an autosomal recessive trait.
Id733069009
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van binnenoor
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypopigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
Has interpretationafwijkend
Interpretsmotiliteit
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified