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429735007: Citrin deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2689500017 Citrin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2693127019 Citrin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5285684019 SLC25A13 related citrin deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5285685018 Solute carrier family 25 member 13 related citrin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2689500017 Citrin deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2689500017 Citrin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2693127019 Citrin deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2693127019 Citrin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2695692018 Citrullinemia ll en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2696096011 Citrullinaemia ll en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5285684019 SLC25A13 related citrin deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5285685018 Solute carrier family 25 member 13 related citrin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3385151001000111 Citrin-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001301000172116 déficit en citrine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001301000172116 déficit en citrine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385151001000111 Citrin-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Citrin deficiency (disorder) Is a Enzymopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Citrin deficiency (disorder) Is a Disorder of the urea cycle metabolism false Inferred relationship Existential restriction modifier (core metadata concept)
Citrin deficiency (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Citrin deficiency (disorder) Is a Citrullinemia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Citrullinemia type II (disorder) Is a True Citrin deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) Due to True Citrin deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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