782886007: Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Metabolic disease\Metabolic disorder of transport\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756553016	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756554010	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3756555011	A rare genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions.	en	Definition	Active	Case sensitive	SNOMED CT core
3756556012	A rare genetic disorder of thiamine metabolism and transport characterised by infantile spasms progressing to symptomatic generalised or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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