Developmental hereditary disorder
Disorder of skeletal muscle
Hereditary disorder of musculoskeletal system
Hereditary disorder of nervous system
Hereditary myopathy
Intellectual disability
Myoclonic encephalopathy
Spasticity
X-linked recessive hereditary disease
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X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
X-linked spasticity, intellectual disability, epilepsy syndrome
This syndrome is characterized by myoclonic epilepsy with generalized spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).
X-gebonden syndroom van spasticiteit, verstandelijke beperking en epilepsie
X-gebonden syndroom van spasticiteit, mentale retardatie en epilepsie
X-gebonden syndroom van spasticiteit, verstandelijke handicap en epilepsie
Id725163002
StatusPrimitive
Finding siteCerebrum
Finding siteSkeletal muscle structure
Has interpretationIncreased
InterpretsMuscle tone
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG40.3
RuleTRUE
AdviceALWAYS G40.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetR25.2
RuleTRUE
AdviceALWAYS R25.2
CorrelationSNOMED CT source code to target map code correlation not specified