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syndroom van letaal ontwikkelingsdefect van hersenen en hart (aandoening)
syndroom van letaal ontwikkelingsdefect van hersenen en hart
Lethal brain and heart developmental defects syndrome
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly) and late fetal loss.
Id1229876001
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map580933
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified