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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 sitestructuur van gebitselement
Occurrencecongenitaal
Clinical courseprogressief
SNOMED CT to Orphanet simple map88637
SNOMED CT to ICD-10 extended map
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