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28882002: Disorder of sulfur-bearing amino acid metabolism (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
48363014 Disorder of sulphur-bearing amino acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
48366018 Disorder of transsulfuration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
48367010 Sulfuraminoacidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484002019 Disorder of sulfur-bearing amino acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484003012 Disorder of transsulphuration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484004018 Sulphuraminoacidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484005017 Disorder of sulphur-bearing amino acid including those due to folate and B12 disturbance en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
484006016 Disorder of sulfur-bearing amino acid including those due to folate and B12 disturbance en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
759612010 Disorder of sulfur-bearing amino acid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


35 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of sulphur-bearing amino acid metabolism est un(e) (attribut) Disorder of amino acid metabolism false Inferred relationship Some
Disorder of sulphur-bearing amino acid metabolism est un(e) (attribut) Disorder of amino acid and organic acid metabolism true Inferred relationship Some
Disorder of sulphur-bearing amino acid metabolism survenue (attribut) congénital false Inferred relationship Some
Disorder of sulphur-bearing amino acid metabolism localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Beta-mercaptolactate cysteine disulfiduria (disorder) est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Deficiency of dihydrofolate reductase est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
cystathioninurie est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Functional defects of methionine synthase est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathione gamma-lyase deficiency est un(e) (attribut) False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Sulfite oxidase deficiency est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
4-Hydroxyphenylpyruvate dioxygenase deficiency est un(e) (attribut) False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Sulphite oxidase deficiency syndrome est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
5,10-Methylenetetrahydrofolate reductase deficiency est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Hypermethioninaemia est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Familial methionine malabsorption est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
homocystinémie (trouble) est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Glutamate formiminotransferase deficiency (disorder) est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Congenital defect of folate absorption (disorder) est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathionine beta-synthase deficiency est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathioninemia est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathionine gamma-lyase deficiency est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Hawkinsinuria (disorder) est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Hyperhomocysteinemia (disorder) est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Tetrahydrofolate methyltransferase deficiency est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathioninemia (disorder) est un(e) (attribut) False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Other specified disturbance of sulfur-bearing amino acid metabolism est un(e) (attribut) False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Disturbance of sulfur-bearing amino acid metabolism NOS est un(e) (attribut) False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Selective malabsorption of cyanocobalamin est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Methionine malabsorption syndrome est un(e) (attribut) False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Transcobalamin I deficiency est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Transcobalamin II deficiency est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Homocystinuria est un(e) (attribut) True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some

This concept is not in any reference sets

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