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57835009: levergebonden deficiëntie van methionine-adenosyltransferase (aandoening)

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

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\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

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	gebrekkige ontwikkeling (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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
6033131000146110	hepatische MAT-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6034231000146118	levergebonden methionine-adenosyltransferasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6034241000146114	hepatische methionine-adenosyltransferasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6104291000146119	levergebonden deficiëntie van methionine-adenosyltransferase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8643001000146116	levergebonden deficiëntie van methionine-adenosyltransferase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)