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syndroom van cutane mastocytose, dwerggroei en gehoorverlies (aandoening)
syndroom van cutane mastocytose, dwerggroei en gehoorverlies
syndroom van cutane mastocytose, kleine gestalte en gehoorverlies
Hennekam Beemer syndrome
Cutaneous mastocytosis, short stature, hearing loss syndrome
Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents.
Id722453009
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycutane mastocytose
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymestcelafwijking
Finding sitemastocytus
Pathological processafwijkend immuunproces
Clinical coursechronisch
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.2
RuleTRUE
AdviceALWAYS Q82.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.2
RuleTRUE
AdviceALWAYS H90.2
CorrelationSNOMED CT source code to target map code correlation not specified