13003007: cystathioninurie (aandoening)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Cystathioninuria
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism\Cystathioninuria
\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\Cystathioninuria

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
Cystathioninuria	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Cystathioninuria	Finding site	Body system structure	false	Inferred relationship	Some
Cystathioninuria	Occurrence	Congenital	false	Inferred relationship	Some
Cystathioninuria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cystathioninuria	Due to	Cystathionine gamma-lyase deficiency	true	Inferred relationship	Some	1
Cystathioninuria	Is a	Inborn error of amino acid metabolism	true	Inferred relationship	Some
Cystathioninuria	Occurrence	Congenital	true	Inferred relationship	Some	2

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
22267013	Cystathioninuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22268015	Cystathioninuria, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
474888013	CTH - Cystathioninuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
734247015	Cystathioninuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5144622010	Cystathionine gamma-lyase deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13632271000146111	cystathioninurie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13632281000146113	cystathioninurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5144623017	A rare inborn error of metabolism with characteristics of 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core