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\Intellectual disability\Neuronal ceroid lipofuscinosis 8

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Neuronal ceroid lipofuscinosis 8
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Neuronal ceroid lipofuscinosis 8
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Neuronal ceroid lipofuscinosis 8

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis 8
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8
\Disease\Degenerative disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Metabolic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis 8
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Chronic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis 8
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Neuronal ceroid lipofuscinosis 8
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Neuronal ceroid lipofuscinosis 8
\Disease\Developmental disorder\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis 8
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8

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
Neuronal ceroid lipofuscinosis 8	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Occurrence	Congenital	false	Inferred relationship	Some	2
Neuronal ceroid lipofuscinosis 8	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis 8	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis 8	Is a	Intellectual disability	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Neuronal ceroid lipofuscinosis 8	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis 8	Is a	Chronic mental disorder	false	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis 8	Occurrence	Congenital	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis 8	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis 8	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Neuronal ceroid lipofuscinosis 8	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis 8	Has interpretation	Impaired	true	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis 8	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Neuronal ceroid lipofuscinosis 8	Has interpretation	Impaired	true	Inferred relationship	Some	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