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15285008: Adenylosuccinate lyase deficiency (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
25935013 Adenylosuccinate lyase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
25936014 Succinylpurinemic autism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
25937017 Succinyladenosinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
25938010 Adenylosuccinate deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
477269019 Succinylpurinaemic autism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
477270018 ASase - Adenylosuccinate lyase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
742058015 Adenylosuccinate lyase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2475495014 Deficiency of adenylosuccinate lyase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
25935013 Adenylosuccinate lyase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
25935013 Adenylosuccinate lyase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
25936014 Succinylpurinemic autism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
25936014 Succinylpurinemic autism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
25937017 Succinyladenosinuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
25937017 Succinyladenosinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
25938010 Adenylosuccinate deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
25938010 Adenylosuccinate deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
477269019 Succinylpurinaemic autism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
477269019 Succinylpurinaemic autism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
477270018 ASase - Adenylosuccinate lyase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
742058015 Adenylosuccinate lyase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
742058015 Adenylosuccinate lyase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2475495014 Deficiency of adenylosuccinate lyase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2475495014 Deficiency of adenylosuccinate lyase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3394981001000115 Adenylosuccinat-Lyase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
895751000172117 déficit en ADSL (adénylosuccinate lyase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
935351000172119 déficit en adénylosuccinate lyase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
895751000172117 déficit en ADSL (adénylosuccinate lyase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
935351000172119 déficit en adénylosuccinate lyase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394981001000115 Adenylosuccinat-Lyase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adenylosuccinate lyase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Adenylosuccinate lyase deficiency Is a Enzymopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Adenylosuccinate lyase deficiency Is a Disorder of purine metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Adenylosuccinate lyase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Adenylosuccinate lyase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Adenylosuccinate lyase deficiency Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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