|||||||
infantiel syndroom van calcificatie van plexus choroideus (aandoening)
infantiel syndroom van calcificatie van plexus choroideus
Infantile choroidocerebral calcification syndrome
Choroid plexus calcification and mental retardation
This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.
Id724228005
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
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 map1313
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