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57835009: Hepatic methionine adenosyltransferase deficiency (disorder)

SNOMED CT Concept\Clinical 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\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Hypermethioninaemia\Hepatic methionine adenosyltransferase deficiency
\Metabolic disease\Enzymopathy\Hepatic methionine adenosyltransferase deficiency

\Congenital disease\Inborn error of metabolism\Hepatic methionine adenosyltransferase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

198791018 Methionine adenosyltransferase deficiency en Synonym Active Case insensitive SNOMED CT core

796501013 Hepatic methionine adenosyltransferase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

96167011 Hepatic methionine adenosyltransferase deficiency en Synonym Active Case insensitive SNOMED CT core

96168018 MAT deficiency en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hepatic methionine adenosyltransferase deficiency	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Finding site	Structure of digestive system	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	Digestive system hereditary 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	Hypermethioninaemia	true	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
Hepatic methionine adenosyltransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Hepatic methionine adenosyltransferase deficiency	Associated morphology	Developmental abnormality	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
198791018	Methionine adenosyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
796501013	Hepatic methionine adenosyltransferase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
96167011	Hepatic methionine adenosyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
96168018	MAT deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core