303093006: non-ketotische hyperglycinemie met deficiëntie van L-eiwit (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\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\Non-ketotic hyperglycinaemia L protein deficiency

\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinaemia\Non-ketotic hyperglycinaemia L protein deficiency

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinaemia\Non-ketotic hyperglycinaemia L protein deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

445165012 Non-ketotic hyperglycinaemia L protein deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

445166013 Non-ketotic hyperglycinemia type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

445167016 Non-ketotic hyperglycinaemia type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

445168014 Non-ketotic hyperglycinemia L protein deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

699270010 Non-ketotic hyperglycinemia L protein deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

528061000146111 non-ketotische hyperglycinemie met deficiëntie van L-eiwit (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

528071000146117 non-ketotische hyperglycinemie met deficiëntie van L-eiwit nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

528081000146115 non-ketotische hyperglycinemie type 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Non-ketotic hyperglycinaemia L protein deficiency	Is a	Non-ketotic hyperglycinaemia	true	Inferred relationship	Some
Non-ketotic hyperglycinaemia L protein deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Non-ketotic hyperglycinaemia L protein deficiency	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets