703526007: Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Degenerative disorder\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Metabolic disease\Chronic metabolic disorder\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Chronic disease\Chronic metabolic disorder\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	Chronic mental disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3008925016	Progressive epilepsy with mental retardation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008996014	Northern epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009778015	Neuronal ceroid lipofuscinosis 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643140012	Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3643141011	Progressive epilepsy-intellectual disability syndrome Finnish type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3008925016	Progressive epilepsy with mental retardation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3008925016	Progressive epilepsy with mental retardation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008996014	Northern epilepsy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3008996014	Northern epilepsy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009093012	Neuronal ceroid lipofuscinosis 8 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009093012	Neuronal ceroid lipofuscinosis 8 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009778015	Neuronal ceroid lipofuscinosis 8	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009778015	Neuronal ceroid lipofuscinosis 8	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643140012	Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3643141011	Progressive epilepsy-intellectual disability syndrome Finnish type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3450281001000116	Epilepsie, progressive - Intelligenzminderung, Finnischer Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974571000172115	CLN, variante épilepsie nordique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
985571000172112	syndrome d'épilepsie-déficience intellectuelle type finnois	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974571000172115	CLN, variante épilepsie nordique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
985571000172112	syndrome d'épilepsie-déficience intellectuelle type finnois	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450281001000116	Epilepsie, progressive - Intelligenzminderung, Finnischer Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module