124592006: Deficiency of lyase (disorder)

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

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

204697019 Deficiency of lyase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728306018 Deficiency of lyase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4775701000241111 déficit en lyase 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 lyase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of lyase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of guanylate cyclase 2C (disorder)	Is a	True	Deficiency of lyase	Inferred relationship	Some
A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.	Is a	True	Deficiency of lyase	Inferred relationship	Some
Deficiency of aromatic-L-amino-acid decarboxylase	Is a	True	Deficiency of lyase	Inferred relationship	Some

This concept is not in any reference sets