190681003: 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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinosis

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Cystinosis

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

293063018 Cystinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293064012 Cystine disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293065013 Cystine storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

293066014 Cystine diathesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

574292018 Cystinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

872741000172116 cystinose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

932911000172110 déficit en transporteur de la cystine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3427491001000116 Cystinose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cystinosis	Is a	Metabolic renal disease	false	Inferred relationship	Some
Cystinosis	Is a	Amino acid transport disorder	true	Inferred relationship	Some
Cystinosis	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Cystinosis	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Cystinosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Cystinosis	Finding site	Kidney structure	false	Inferred relationship	Some
Cystinosis	Is a	Storage disease	false	Inferred relationship	Some
Cystinosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cystinosis	Finding site	Body system structure	false	Inferred relationship	Some
Cystinosis	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Juvenile nephropathic cystinosis	Is a	True	Cystinosis	Inferred relationship	Some
Benign adult cystinosis	Is a	True	Cystinosis	Inferred relationship	Some
Infantile nephropathic cystinosis	Is a	True	Cystinosis	Inferred relationship	Some
[EDTA] Cystinosis associated with renal failure	Is a	False	Cystinosis	Inferred relationship	Some
Hypothyroidism due to cystinosis	Due to	True	Cystinosis	Inferred relationship	Some	2
Renal tubulo-interstitial disorder due to cystinosis (disorder)	Due to	True	Cystinosis	Inferred relationship	Some	3

This concept is not in any reference sets