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syndroom van microftalmie met lineaire huiddefecten (aandoening)
syndroom van microftalmie met lineaire huiddefecten
MIDAS-syndroom
syndromale microftalmie type 7
microftalmie met lineaire huiddefecten-syndroom
microftalmie-dermale aplasie-sclerocornea-syndroom
Microphthalmia with linear skin defect syndrome
MIDAS syndrome
MIDAS syndrome (microphthalmia, dermal aplasia, sclerocornea) syndrome
Syndromic microphthalmia type 7
Syndrome with characteristics of ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.
Id721879006
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitegeheel oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ11.2
RuleTRUE
AdviceALWAYS Q11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.8
RuleTRUE
AdviceALWAYS Q84.8
CorrelationSNOMED CT source code to target map code correlation not specified