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syndroom van microcornea, myopische chorioretinale atrofie en telecanthus (aandoening)
syndroom van microcornea, myopische chorioretinale atrofie en telecanthus
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome
MMCAT syndrome
MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome
A rare genetic developmental defect of the eye disease with characteristics of childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupil and retinal detachment. There is evidence the disease is caused by homozygous mutation in the ADAMTS18 gene on chromosome 16q23.
Id774212003
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van cornea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatrophia
Finding sitestructuur van choroidea
Associated morphologyatrophia
Finding sitestructuur van retina
referentieset met complexe 'mapping' naar ICD-10
TargetQ15.8
RuleTRUE
AdviceALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified