40873003: Sulfite oxidase deficiency syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Sulphite oxidase deficiency syndrome

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sulphite oxidase deficiency syndrome

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Sulphite oxidase deficiency syndrome

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Sulphite oxidase deficiency syndrome
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Sulphite oxidase deficiency syndrome
\Metabolic disease\Enzymopathy\Sulphite oxidase deficiency syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sulphite oxidase deficiency syndrome	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sulphite oxidase deficiency syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sulphite oxidase deficiency syndrome	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sulphite oxidase deficiency syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sulphite oxidase deficiency syndrome	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Sulphite oxidase deficiency syndrome	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
68173011	Sulfite oxidase deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68174017	Sulfocysteinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492815012	Sulphocysteinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492816013	Sulphite oxidase deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777597016	Sulfite oxidase deficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68173011	Sulfite oxidase deficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
68173011	Sulfite oxidase deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
68174017	Sulfocysteinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
68174017	Sulfocysteinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492815012	Sulphocysteinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
492815012	Sulphocysteinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492816013	Sulphite oxidase deficiency syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
492816013	Sulphite oxidase deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777597016	Sulfite oxidase deficiency syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
777597016	Sulfite oxidase deficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3444511001000115	Sulfitoxidase-Mangel, isolierter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4523461000241115	déficit en sulfite-oxidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4523461000241115	déficit en sulfite-oxidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444511001000115	Sulfitoxidase-Mangel, isolierter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module