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syndroom van congenitaal cataract, verstandelijke beperking en hypogonadotroop hypogonadisme (aandoening)
syndroom van congenitaal cataract, verstandelijke beperking en hypogonadotroop hypogonadisme
syndroom van congenitaal cataract, verstandelijke handicap en hypogonadotroop hypogonadisme
syndroom van Martsolf
syndroom van congenitaal cataract, mentale retardatie en hypogonadotroop hypogonadisme
Martsolf syndrome
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
Syndrome with the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Mutations in the RAB3GAP2 gene have been identified in some patients. Transmission is autosomal recessive.
Id722380003
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
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