15285008: Adenylosuccinate lyase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Adenylosuccinate lyase deficiency

\trouble métabolique\Disorder of purine and pyrimidine metabolism\troubles du métabolisme des purines\Adenylosuccinate lyase deficiency
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Adenylosuccinate lyase deficiency

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

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 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

398561000241110 déficit en adénylosuccinate lyase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

895751000172117 déficit en ADSL (adénylosuccinate lyase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

935351000172119 déficit en adénylosuccinate lyase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adenylosuccinate lyase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Adenylosuccinate lyase deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Adenylosuccinate lyase deficiency	est un(e) (attribut)	troubles du métabolisme des purines	true	Inferred relationship	Some
Adenylosuccinate lyase deficiency	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Adenylosuccinate lyase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some
Adenylosuccinate lyase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada French language reference set (foundation metadata concept)