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geïsoleerde cryptoftalmie (aandoening)
geïsoleerde cryptoftalmie
Isolated cryptophthalmos
Isolated cryptophthalmia
A congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral cryptophthalmia have been described. Transmission is autosomal dominant.
Id718691008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van palpebra
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map91396
SNOMED CT to ICD-10 extended map
TargetQ11.2
RuleTRUE
AdviceALWAYS Q11.2
CorrelationSNOMED CT source code to target map code correlation not specified