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Microphthalmia with linear skin defect syndrome (disorder)
Microphthalmia with linear skin defect syndrome
Syndromic microphthalmia type 7
MIDAS syndrome
MIDAS syndrome (microphthalmia, dermal aplasia, sclerocornea) syndrome
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.
syndroom van microftalmie met lineaire huiddefecten
MIDAS-syndroom
syndromale microftalmie type 7
microftalmie met lineaire huiddefecten-syndroom
microftalmie-dermale aplasie-sclerocornea-syndroom
Id721879006
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteEntire eye
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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