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22830006: Juvenile nephropathic cystinosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Cystinosis (disorder)\Juvenile nephropathic cystinosis

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Cystinosis (disorder)\Juvenile nephropathic cystinosis
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Cystinosis (disorder)\Juvenile nephropathic cystinosis
\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Cystinosis (disorder)\Juvenile nephropathic cystinosis
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Cystinosis (disorder)\Juvenile nephropathic cystinosis

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Cystinosis (disorder)\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	Is a	Cystinosis (disorder)	true	Inferred relationship	Some
Juvenile nephropathic cystinosis	Is a	Cystinosis	false	Inferred relationship	Some
Juvenile nephropathic cystinosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Juvenile nephropathic cystinosis	Finding site	Kidney structure	false	Inferred relationship	Some
Juvenile nephropathic cystinosis	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
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
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)	Belgian module (core metadata concept)
1002831000172114	cystinose intermédiaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
879491000172110	intermediaire cystinose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
896941000172114	juveniele nefropathische cystinose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)