23501004: Arginase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

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

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

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

\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Arginase deficiency
\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Arginase deficiency

\trouble métabolique\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
\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Arginase deficiency
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Arginase deficiency

\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\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

2475895017 Deficiency of arginase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arginase deficiency	est un(e) (attribut)	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Arginase deficiency	est un(e) (attribut)	Disorder of the urea cycle metabolism	true	Inferred relationship	Some
Arginase deficiency	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
Arginase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Arginase deficiency	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Arginase deficiency	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	2
Arginase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)