703526007: syndrome d'épilepsie-déficience intellectuelle type finnois (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \Developmental hereditary disorder\Neuronal ceroid lipofuscinosis 8
• \Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis 8
• \affection dégénérative\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8
• \affection dégénérative\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Neuronal ceroid lipofuscinosis 8
• \affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8
• \trouble métabolique\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis 8
• \trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Lipofuscinosis\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \trouble mental\troubles mentaux du développement\Intellectual disability\Neuronal ceroid lipofuscinosis 8
• \trouble mental\Chronic mental disorder\Neuronal ceroid lipofuscinosis 8
• \Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Neuronal ceroid lipofuscinosis 8
• \Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\Neuronal ceroid lipofuscinosis 8
• \maladie chronique\Chronic mental disorder\Neuronal ceroid lipofuscinosis 8
• \maladie chronique\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis 8
• \maladie chronique\trouble neurologique chronique\Neuronal ceroid lipofuscinosis 8
• \trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Neuronal ceroid lipofuscinosis 8
• \trouble du développement\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis 8
• \trouble du développement\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:

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
734291000241117	syndrome d'épilepsie-déficience intellectuelle type finnois (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
974571000172115	CLN, variante épilepsie nordique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
985571000172112	syndrome d'épilepsie-déficience intellectuelle type finnois	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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