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190681003: Cystinosis (disorder)

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
293063018 Cystinosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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
1222227015 Lignac-Fanconi syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1222227015 Lignac-Fanconi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3427491001000116 Cystinose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cystinosis Is a Metabolic renal disease false Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Is a Amino acid transport disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Is a Hereditary disorder of the urinary system false Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Is a Congenital anomaly of trunk false Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cystinosis Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Is a Storage disease false Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Is a Lysosomal storage disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Juvenile nephropathic cystinosis (disorder) Is a True Cystinosis Inferred relationship Existential restriction modifier (core metadata concept)
Benign adult cystinosis Is a True Cystinosis Inferred relationship Existential restriction modifier (core metadata concept)
Infantile nephropathic cystinosis Is a True Cystinosis Inferred relationship Existential restriction modifier (core metadata concept)
[EDTA] Cystinosis associated with renal failure Is a False Cystinosis Inferred relationship Existential restriction modifier (core metadata concept)
Hypothyroidism due to cystinosis Due to True Cystinosis Inferred relationship Existential restriction modifier (core metadata concept) 2
Renal tubulo-interstitial disorder due to cystinosis (disorder) Due to True Cystinosis Inferred relationship Existential restriction modifier (core metadata concept) 3

This concept is not in any reference sets

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