22830006: Juvenile nephropathic cystinosis (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Cystinosis\Juvenile nephropathic cystinosis
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis\Juvenile nephropathic cystinosis
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Cystinosis\Juvenile nephropathic cystinosis
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Cystinosis\Juvenile nephropathic cystinosis
• \Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Cystinosis\Juvenile nephropathic cystinosis
• \Congenital disease\Inborn error of metabolism\Storage disease\Cystinosis\Juvenile nephropathic cystinosis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
38322017	Juvenile nephropathic cystinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
38323010	Adolescent cystinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
38324016	Intermediate cystinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
38325015	Late-onset cystinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
38326019	Cystinosis, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
38327011	Juvenile cystinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
752282014	Juvenile nephropathic cystinosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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