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syndroom van ectodermale dysplasie en blindheid (aandoening)
syndroom van ectodermale dysplasie en blindheid
Ectodermal dysplasia with blindness syndrome
Syndrome with characteristics of intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.
Id721208007
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH54.0
RuleTRUE
AdviceALWAYS H54.0
CorrelationSNOMED CT source code to target map code correlation not specified