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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\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 (disorder)\Hereditary disorder of nervous system (disorder)\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 foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\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 (disorder)\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756554010	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756553016	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756554010	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3383381001000117	Infantile Spasmen-psychomotorische Retardierung-progressive Hirnatrophie-Basalganglienerkrankung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6247001000241117	syndrome de spasmes infantiles, retard psychomoteur, atrophie cérébrale progressive et anomalie des ganglions de la base	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6247001000241117	syndrome de spasmes infantiles, retard psychomoteur, atrophie cérébrale progressive et anomalie des ganglions de la base	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383381001000117	Infantile Spasmen-psychomotorische Retardierung-progressive Hirnatrophie-Basalganglienerkrankung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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