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X-gebonden verstandelijke beperking Hedera-type (aandoening)
X-gebonden verstandelijke beperking Hedera-type
X-gebonden mentale retardatie Hedera-type
X-gebonden verstandelijke handicap Hedera-type
X-linked intellectual disability Hedera type
X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
Id726727003
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
TargetF79.9
TermNiet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen
SNOMED CT to Orphanet simple map93952
SNOMED CT to ICD-10 extended map
TargetF83
RuleTRUE
AdviceALWAYS F83 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified