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odontoleukodystrofie (aandoening)
odontoleukodystrofie
Odontoleukodystrophy
Dentoleukoencephalopathy
Leukodystrophy with oligodontia
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.
Id722064003
StatusPrimitive
Associated morphologyafwijkend aantal
Finding sitegeheel gebitselement
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
SNOMED CT to Orphanet simple map77295
SNOMED CT to ICD-10 extended map
TargetE75.2
RuleTRUE
AdviceALWAYS E75.2
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