Edinburgh malformatiesyndroom (aandoening)
Edinburgh malformatiesyndroom
typus Edinburgensis
Edinburgh malformation syndrome
Typus Edinburgensis
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermGebalanceerde autosomale herschikking bij individu met afwijkingen
SNOMED CT to Orphanet simple map1895
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q95.2
CorrelationSNOMED CT source code to target map code correlation not specified