67845009: deficiëntie van aminomethyltransferase (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Aminomethyltransferase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aminomethyltransferase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Aminomethyltransferase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Aminomethyltransferase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glycine metabolism\Hyperglycinemia\Non-ketotic hyperglycinaemia\Aminomethyltransferase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinaemia\Aminomethyltransferase deficiency
\Metabolic disease\Enzymopathy\Aminomethyltransferase deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinaemia\Aminomethyltransferase 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
Aminomethyltransferase deficiency	Is a	Non-ketotic hyperglycinaemia	true	Inferred relationship	Some
Aminomethyltransferase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Aminomethyltransferase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Aminomethyltransferase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Aminomethyltransferase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Aminomethyltransferase deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Some

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
112699014	Aminomethyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112700010	T-protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
112701014	Tetrahydrofolate aminomethyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112702019	Nonketotic hyperglycinemia, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
500856011	T protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
500857019	Nonketotic hyperglycinaemia, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
500858012	Non-ketotic hyperglycinemia T protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
500859016	Non-ketotic hyperglycinemia type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
500860014	Non-ketotic hyperglycinaemia T protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
500861013	Non-ketotic hyperglycinaemia type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
807614010	Aminomethyltransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
212431000146111	AMT-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
212441000146115	deficiëntie van aminomethyltransferase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
248531000146115	deficiëntie van aminomethyltransferase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
527901000146110	non-ketotische hyperglycinemie met deficiëntie van T-eiwit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
527921000146119	non-ketotische hyperglycinemie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)