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22830006: Juvenile nephropathic cystinosis (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Storage disease\Cystinosis\Juvenile nephropathic cystinosis

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis\Juvenile nephropathic cystinosis

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Cystinosis\Juvenile nephropathic cystinosis
\trouble métabolique\trouble métabolique du transport\Amino acid transport disorder\Cystinosis\Juvenile nephropathic cystinosis
\trouble métabolique\Inborn error of metabolism\Storage disease\Cystinosis\Juvenile nephropathic cystinosis

\Congenital disease\Inborn error of metabolism\Storage disease\Cystinosis\Juvenile nephropathic cystinosis

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 nephropathic cystinosis	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Juvenile nephropathic cystinosis	est un(e) (attribut)	Cystinosis	true	Inferred relationship	Some
Juvenile nephropathic cystinosis	est un(e) (attribut)	Cystinosis (disorder)	false	Inferred relationship	Some
Juvenile nephropathic cystinosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Juvenile nephropathic cystinosis	localisation d'une constatation (attribut)	structure d'un rein	false	Inferred relationship	Some

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
1002831000172114	cystinose intermédiaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
38322017	Juvenile nephropathic cystinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38323010	Adolescent cystinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38324016	Intermediate cystinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38325015	Late-onset cystinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
38326019	Cystinosis, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
38327011	Juvenile cystinosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
406601000241119	cystinose néphropathique juvénile (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
752282014	Juvenile nephropathic cystinosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
875791000172118	cystinose néphropathique juvénile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)