64852002: Sarcosine dehydrogenase deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Sarcosine dehydrogenase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sarcosine dehydrogenase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Sarcosine dehydrogenase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glycine metabolism\Sarcosine dehydrogenase deficiency
\Metabolic disease\Enzymopathy\Sarcosine dehydrogenase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Sarcosine dehydrogenase 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

107791015 Sarcosine dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

107792010 Sarcosinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

107793017 Sarcosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

107794011 Hypersarcosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

107795012 Deficiency of the sarcosine dehydrogenase complex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

107796013 Demethylation defect of N-methylglycine en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

499975015 Sarcosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

499976019 Hypersarcosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

804291015 Sarcosine dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4602231000241119 déficit en sarcosine-déshydrogénase 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
Sarcosine dehydrogenase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Sarcosine dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Sarcosine dehydrogenase deficiency	Is a	Disorder of glycine metabolism	true	Inferred relationship	Some
Sarcosine dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Sarcosine dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Sarcosine dehydrogenase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets