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X-gebonden syndroom van verstandelijke beperking, cardiomegalie en congestief hartfalen (aandoening)
X-gebonden syndroom van verstandelijke beperking, cardiomegalie en congestief hartfalen
X-gebonden syndroom van mentale retardatie, cardiomegalie en congestief hartfalen
X-gebonden syndroom van verstandelijke handicap, cardiomegalie en congestief hartfalen
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome
A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28.
Id773587008
StatusPrimitive
Finding sitestructuur van hart
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
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 map324410
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