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syndroom van microcefalie en microcornea van type Seemanova (aandoening)
syndroom van microcefalie en microcornea van type Seemanova
microcefalie-microcorneasyndroom type Seemanova
syndroom van Seemanova-Lesny
Seemanova Lesny syndrome
Microcephalus microcornea syndrome of Seemanova type
Microcephaly microcornea syndrome Seemanova type
Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait.
Id715464002
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van cornea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2528
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified