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cerebrale calcificatie van Rajab-type (aandoening)
cerebrale calcificatie van Rajab-type
hersencalcinose van Rajab-type
Brain calcification Rajab type
Rajab syndrome
An inherited disorder with characteristics of widespread calcifications of the basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. The syndrome has been described in eight children from two interrelated families. The disorder is associated with a genetic locus on chromosome 2 and transmission is autosomal recessive.
Id720576001
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG93.8
TermOverige gespecificeerde hersenaandoeningen
SNOMED CT to Orphanet simple map178506
SNOMED CT to ICD-10 extended map
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified