23501004: arginasedeficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Arginase deficiency

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Arginase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Arginase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Arginase deficiency

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Arginase deficiency
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Arginase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Arginase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Arginase deficiency
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Arginase 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

39458015 Arginase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
39459011 Argininemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
39460018 Hyperargininemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
39461019 ARGI deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
481635014 Argininaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
481636010 Hyperargininaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753030010 Arginase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2475895017 Deficiency of arginase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5287011017 ARG1-gene related arginase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5287012012 Arginase 1-gene related arginase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
343001000146119 arginasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
343011000146117 arginasedeficiëntie (aandoening) nl Fully specified name 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
Arginase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Arginase deficiency	Is a	Disorder of the urea cycle metabolism	true	Inferred relationship	Some
Arginase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Arginase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Arginase deficiency	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Arginase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Arginase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets