784373007: Beta-mercaptolactate cysteine disulfiduria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Beta-mercaptolactate cysteine disulfiduria (disorder)
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Beta-mercaptolactate cysteine disulfiduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3763840015	Beta-mercaptolactate cysteine disulfiduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763841016	Ampola syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763842011	Beta-mercaptolactate cysteine disulfiduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763843018	An extremely rare disorder of methionine cycle and sulfur amino acid metabolism with characteristics of 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763844012	An extremely rare disorder of methionine cycle and sulphur amino acid metabolism with characteristics of 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 behavioural abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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