124711003: Deficiency of argininosuccinate synthase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of argininosuccinate synthase (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

205025010 Deficiency of citrulline-aspartate ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

205026011 Deficiency of argininosuccinate synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728443017 Deficiency of argininosuccinate synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5308639019 Argininosuccinate synthase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4777361000241118 déficit en argininosuccinate synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of argininosuccinate synthase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of argininosuccinate synthase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form and by variable hyperammonemia in the later-onset form.	Due to	True	Deficiency of argininosuccinate synthase (disorder)	Inferred relationship	Some	1
A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	Due to	True	Deficiency of argininosuccinate synthase (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets