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Growth delay, intellectual disability, hepatopathy syndrome (disorder)
Growth delay, intellectual disability, hepatopathy syndrome
A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss.
syndroom van vertraagde groei, verstandelijke beperking en hepatopathie
syndroom van groeivertraging, mentale retardatie en aandoening van lever
syndroom van groeiachterstand, verstandelijke handicap en leverziekte
Id1186713004
StatusPrimitive
Finding siteLiver structure
OccurrenceNeonatal
Associated morphologyGrowth retardation
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetF78.8
RuleTRUE
AdviceALWAYS F78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified