63329001: non-ketotische hyperglycinemie met deficiëntie van P-eiwit (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Glycine dehydrogenase (decarboxylating) deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycine dehydrogenase (decarboxylating) deficiency

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycine dehydrogenase (decarboxylating) 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\Glycine dehydrogenase (decarboxylating) 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\Glycine dehydrogenase (decarboxylating) deficiency
\Metabolic disease\Enzymopathy\Glycine dehydrogenase (decarboxylating) deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinaemia\Glycine dehydrogenase (decarboxylating) 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
Glycine dehydrogenase (decarboxylating) deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Glycine dehydrogenase (decarboxylating) deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glycine dehydrogenase (decarboxylating) deficiency	Is a	Non-ketotic hyperglycinaemia	true	Inferred relationship	Some
Glycine dehydrogenase (decarboxylating) deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Glycine dehydrogenase (decarboxylating) deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Glycine dehydrogenase (decarboxylating) 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
105268016	Glycine dehydrogenase (decarboxylating) deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
105269012	Nonketotic hyperglycinemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
105270013	Glycine decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
105271012	P-protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499553012	P protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
499554018	Glycine dehydrogenase decarboxylating deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499555017	Nonketotic hyperglycinaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
499556016	Non-ketotic hyperglycinemia P protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
499557013	Non-ketotic hyperglycinemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
499558015	Non-ketotic hyperglycinaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
499559011	Non-ketotic hyperglycinaemia P protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
802600017	Glycine dehydrogenase (decarboxylating) deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
527221000146112	non-ketotische hyperglycinemie met deficiëntie van P-eiwit	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
527231000146114	non-ketotische hyperglycinemie met deficiëntie van P-eiwit (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
527241000146118	non-ketotische hyperglycinemie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)