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syndroom van 'G protein subunit beta 5'-gerelateerde verstandelijke beperking en hartritmestoornis (aandoening)
syndroom van GNB5-gerelateerde verstandelijke beperking en hartritmestoornis
syndroom van GNB5-gerelateerde verstandelijke handicap en cardiale aritmie
syndroom van 'G protein subunit beta 5'-gerelateerde verstandelijke beperking en hartritmestoornis
syndroom van GNB5-gerelateerde mentale retardatie en cardiale aritmie
GNB5-related intellectual disability, cardiac arrhythmia syndrome
G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome
A rare genetic disease characterized by intellectual disability, developmental delay, language deficits and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism and gastro-esophageal reflux. The severity of the phenotype is highly variable.
Id1186711002
StatusPrimitive
Finding sitestructuur van hart
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map542306
SNOMED CT to ICD-10 extended map
TargetI49.8
RuleTRUE
AdviceALWAYS I49.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified