50071000052104: Nephropathic cystinosis (disorder)

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

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism\Storage disease\Cystinosis (disorder)\Nephropathic cystinosis (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis (disorder)\Nephropathic cystinosis (disorder)

\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)\Nephropathic cystinosis (disorder)
\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Cystinosis (disorder)\Nephropathic cystinosis (disorder)
\Metabolic disease\Inborn error of metabolism\Storage disease\Cystinosis (disorder)\Nephropathic cystinosis (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Cystinosis (disorder)\Nephropathic cystinosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2015. Module: SNOMED CT Sweden NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

3754371000052117 Nephropathic cystinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

3754381000052115 Nephropathic cystinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

3754391000052118 nefropatisk cystinos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nephropathic cystinosis (disorder)	Is a	Cystinosis (disorder)	true	Inferred relationship	Some
Nephropathic cystinosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets