Developmental hereditary disorder
Intellectual disability
X-linked recessive hereditary disease
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X-linked intellectual disability Hedera type (disorder)
X-linked intellectual disability Hedera type
A rare X-linked intellectual disability syndrome characterized by 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.
X-gebonden verstandelijke beperking Hedera-type
X-gebonden verstandelijke handicap Hedera-type
X-gebonden mentale retardatie Hedera-type
Id726727003
StatusPrimitive
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified