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syndroom van hypomyelinisatie, hypogonadotroop hypogonadisme en hypodontie (aandoening)
syndroom van hypomyelinisatie, hypogonadotroop hypogonadisme en hypodontie
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome
4H syndrome
A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.
Id721846006
StatusPrimitive
Associated morphologyafwezigheid
Finding sitegeheel gebitselement
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK00.0
RuleTRUE
AdviceALWAYS K00.0
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