724040000: Deficiency of S-adenosylhomocysteine hydrolase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of S-adenosylhomocysteine hydrolase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3429212017 Deficiency of S-adenosylhomocysteine hydrolase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3429213010 S-adenosylhomocysteine hydrolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3429214016 Deficiency of S-adenosylhomocysteine hydrolase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5865911000241111 déficit en S-adénosylhomocystéine hydrolase fr Synonym (core metadata concept) Active Only initial character 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 S-adenosylhomocysteine hydrolase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, multisystemic inherited metabolic disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.	Due to	True	Deficiency of S-adenosylhomocysteine hydrolase (disorder)	Inferred relationship	Some	1

This concept is not in any reference sets