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\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
\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

38322017 Juvenile nephropathic cystinosis en Synonym Active Entire term case insensitive SNOMED CT core module

38323010 Adolescent cystinosis en Synonym Active Entire term case insensitive SNOMED CT core module

38324016 Intermediate cystinosis en Synonym Active Entire term case insensitive SNOMED CT core module

38325015 Late-onset cystinosis en Synonym Active Entire term case insensitive SNOMED CT core module

38326019 Cystinosis, type II en Synonym Active Only initial character case insensitive SNOMED CT core module

38327011 Juvenile cystinosis en Synonym Active Entire term case insensitive SNOMED CT core module

752282014 Juvenile nephropathic cystinosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juvenile nephropathic cystinosis	Is a	Cystinosis	true	Inferred relationship	Existential restriction modifier
Juvenile nephropathic cystinosis	Is a	Cystinosis	false	Inferred relationship	Existential restriction modifier
Juvenile nephropathic cystinosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Juvenile nephropathic cystinosis	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier
Juvenile nephropathic cystinosis	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets