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syndroom van gedilateerde cardiomyopathie met hypergonadotroop hypogonadisme (aandoening)
syndroom van gedilateerde cardiomyopathie met hypergonadotroop hypogonadisme
gedilateerde cardiomyopathie met primair hypogonadisme
syndroom van Najjar
Malouf-syndroom
cardiogenitaal syndroom
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome
Najjar syndrome
Malouf syndrome
Cardiogenital syndrome
Syndrome that associates dilated cardiomyopathy with hypergonadotropic hypogonadism. Prevalence is unknown but less than 20 affected families have been described in the literature so far. Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies and metabolic abnormalities. Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia). Transmission appears to be autosomal recessive.
Id719451006
StatusPrimitive
Associated morphologydilatatie
Finding sitestructuur van myocardium
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetI42.0
RuleTRUE
AdviceALWAYS I42.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0
CorrelationSNOMED CT source code to target map code correlation not specified