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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
4482881000241118 trouble du métabolisme des acides aminés soufrés fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

37 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of sulphur-bearing amino acid metabolism Is a Disorder of amino acid metabolism false Inferred relationship Some
Disorder of sulphur-bearing amino acid metabolism Occurrence Congenital false Inferred relationship Some
Disorder of sulphur-bearing amino acid metabolism Finding site Body system structure false Inferred relationship Some
Disorder of sulphur-bearing amino acid metabolism Is a Disorder of amino acid and organic acid metabolism true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Selective malabsorption of cyanocobalamin Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Methionine malabsorption syndrome Is a False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Transcobalamin I deficiency Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Transcobalamin II deficiency Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Homocystinuria Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Deficiency of dihydrofolate reductase Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Functional defects of methionine synthase Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathione gamma-lyase deficiency Is a False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Sulfite oxidase deficiency Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
4-Hydroxyphenylpyruvate dioxygenase deficiency Is a False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Sulfite oxidase deficiency syndrome Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
5,10-Methylenetetrahydrofolate reductase deficiency Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Hypermethioninemia Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Familial methionine malabsorption Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Homocystinemia Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Glutamate formiminotransferase deficiency Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Congenital defect of folate absorption Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathioninemia Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathionine gamma-lyase deficiency Is a False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Tetrahydrofolate methyltransferase deficiency Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathioninemia Is a False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Other specified disturbance of sulfur-bearing amino acid metabolism Is a False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Disturbance of sulfur-bearing amino acid metabolism NOS Is a False Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Cystathionine beta-synthase deficiency Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Hawkinsinuria (disorder) Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
Hyperhomocysteinemia (disorder) Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981. Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine. Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some
A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. Is a True Disorder of sulphur-bearing amino acid metabolism Inferred relationship Some

This concept is not in any reference sets

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