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57835009: Hepatic methionine adenosyltransferase deficiency (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Hepatic methionine adenosyltransferase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hepatic methionine adenosyltransferase deficiency
\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\Hypermethioninemia\Hepatic methionine adenosyltransferase deficiency
\Metabolic disease\Enzymopathy\Hepatic methionine adenosyltransferase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Hepatic methionine adenosyltransferase deficiency

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
Hepatic methionine adenosyltransferase deficiency	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Is a	Congenital anomaly of liver	false	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Is a	Hypermethioninemia	true	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Finding site	Liver structure	false	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Finding site	Digestive organ structure	false	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Is a	Congenital anomaly of abdomen	false	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Is a	Congenital anomaly of body cavity	false	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Finding site	Liver structure	false	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1

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
96167011	Hepatic methionine adenosyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96168018	MAT deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
198791018	Methionine adenosyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
796501013	Hepatic methionine adenosyltransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5847861000172114	déficit en méthionine-adénosyltransférase hépatique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5074011000172112	levergebonden deficiëntie van methionine-adenosyltransferase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5074021000172119	levergebonden methionine-adenosyltransferasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5074031000172116	hepatische MAT-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5074041000172111	hepatische methionine-adenosyltransferasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)