15285008: Adenylosuccinate lyase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Adenylosuccinate lyase deficiency

\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Adenylosuccinate lyase deficiency
\Metabolic disease\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

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

790241000052110 brist på adenylosuccinatlyas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adenylosuccinate lyase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Adenylosuccinate lyase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Adenylosuccinate lyase deficiency	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
Adenylosuccinate lyase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Adenylosuccinate lyase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Adenylosuccinate lyase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets