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syndroom van microftalmie, ankyloblefaron en verstandelijke beperking (aandoening)
syndroom van microftalmie, ankyloblefaron en verstandelijke beperking
MCOPS4
syndromale microftalmie type 4
syndroom van microftalmie, ankyloblefaron en verstandelijke handicap
syndroom van microftalmie, ankyloblefaron en mentale retardatie
Microphthalmia with ankyloblepharon and intellectual disability syndrome
Syndromic microphthalmia type 4
This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localized to the Xq27-q28 region.
Id717222003
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitegeheel oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyadhesie
Finding sitestructuur van vrije rand van palpebra
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ11.2
RuleTRUE
AdviceALWAYS Q11.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ10.3
RuleTRUE
AdviceALWAYS Q10.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified