61663001: Juvenile neuronal ceroid lipofuscinosis (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du mouvement\Movement disorder\Myoclonic disorder\Juvenile neuronal ceroid lipofuscinosis

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis

\affection de la tête\Disorder of brain (disorder)\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble de la pigmentation\Juvenile neuronal ceroid lipofuscinosis
\Disease\affection dégénérative\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Myoclonic disorder\Juvenile neuronal ceroid lipofuscinosis
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\affection de la tête\Disorder of brain (disorder)\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\maladie de surchage lipidique\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\maladie de surchage lipidique\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Lipofuscinosis\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipofuscinosis\céroïde-lipofuscinose neuronale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\lipoïdose cérébrale\Juvenile neuronal ceroid lipofuscinosis
\Disease\Movement disorder\Myoclonic disorder\Juvenile neuronal ceroid lipofuscinosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juvenile neuronal ceroid lipofuscinosis	interprète (attribut)	Movement (observable entity)	true	Inferred relationship	Some	2
Juvenile neuronal ceroid lipofuscinosis	est un(e) (attribut)	lipoïdose cérébrale	true	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	est un(e) (attribut)	Congenital anomaly of head	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	est un(e) (attribut)	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	est un(e) (attribut)	céroïde-lipofuscinose neuronale	true	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	est un(e) (attribut)	Myoclonic disorder	true	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	est un(e) (attribut)	trouble de la pigmentation	true	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	est un(e) (attribut)	lésion cérébrale	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	localisation d'une constatation (attribut)	Muscle structure	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	2
Juvenile neuronal ceroid lipofuscinosis	localisation d'une constatation (attribut)	structure de l'encéphale	true	Inferred relationship	Some	4
Juvenile neuronal ceroid lipofuscinosis	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Juvenile neuronal ceroid lipofuscinosis	localisation d'une constatation (attribut)	Muscle tissue	false	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Juvenile neuronal ceroid lipofuscinosis	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
Juvenile neuronal ceroid lipofuscinosis	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some	1
Juvenile neuronal ceroid lipofuscinosis	morphologie associée (attribut)	Lipochrome pigmentation (morphologic abnormality)	true	Inferred relationship	Some	1
Juvenile neuronal ceroid lipofuscinosis	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1019671000172117	CLN (céroïde-lipofuscinose neuronale) juvénile	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
102454019	Juvenile neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102455018	Batten-Mayou disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
102456017	Spielmeyer-Vogt disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
102457014	Amaurotic idiocy, juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102458016	Cerebral lipidosis, myoclonic variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
102459012	Batten-Spielmeyer-Vogt disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
123921000077115	céroïde-lipofuscinose neuronale juvénile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
396251000077112	céroïde-lipofuscinose neuronale juvénile (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
499085016	Cerebral lipidosis myoclonic variant	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499086015	Batten-Mayou syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499087012	Amaurotic idiocy juvenile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499088019	Spielmeyer-Vogt type neuronal ceroid lipofuscinosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
800750012	Juvenile neuronal ceroid lipofuscinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core