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syndromale microftalmie type 5 (aandoening)
syndromale microftalmie type 5
syndromale microftalmie door OTX2-mutatie
Syndromic microphthalmia type 5
Syndromic microphthalmia due to OTX2 mutation
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
The association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Less than 20 cases have been reported in the literature so far. The clinical picture is highly variable, even between affected members of the same family. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency, has also been reported. The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3).
Id718761007
StatusPrimitive
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