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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Neuronal ceroid lipofuscinosis 8

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Neuronal ceroid lipofuscinosis 8
\Functional finding\Cognitive function 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\Disorder of lysosomal enzyme\Lipofuscinosis\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\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\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Neuronal ceroid lipofuscinosis 8
\Disease\Disorder of body system\Neurological 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\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Metabolic disease\Chronic metabolic disorder\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\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis 8
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\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\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 anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1720241000168112 Progressive epilepsy with intellectual disability en Synonym Active Case insensitive SNOMED Clinical Terms Australian extension

3008925016 Progressive epilepsy with mental retardation en Synonym Active Case insensitive SNOMED CT core

3008996014 Northern epilepsy en Synonym Active Case insensitive SNOMED CT core

3009778015 Neuronal ceroid lipofuscinosis 8 en Synonym Active Case insensitive SNOMED CT core

3643140012 Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3643141011 Progressive epilepsy-intellectual disability syndrome Finnish type en Synonym Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neuronal ceroid lipofuscinosis 8	Pathological process	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	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Finding site	Structure of nervous system	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis 8	Occurrence	Congenital	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis 8	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis 8	Clinical course	Progressive	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	true	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis 8	Has interpretation	Impaired	true	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis 8	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Neuronal ceroid lipofuscinosis 8	Has interpretation	Impaired	true	Inferred relationship	Some	4
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	false	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis 8	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1720241000168112	Progressive epilepsy with intellectual disability	en	Synonym	Active	Case insensitive	SNOMED Clinical Terms Australian extension
3008925016	Progressive epilepsy with mental retardation	en	Synonym	Active	Case insensitive	SNOMED CT core
3008996014	Northern epilepsy	en	Synonym	Active	Case insensitive	SNOMED CT core
3009778015	Neuronal ceroid lipofuscinosis 8	en	Synonym	Active	Case insensitive	SNOMED CT core
3643140012	Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3643141011	Progressive epilepsy-intellectual disability syndrome Finnish type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core