360378009: Homogentisate 1,2-dioxygenase deficiency (disorder)

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

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Homogentisate 1,2-dioxygenase deficiency

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism (disorder)\Homogentisate 1,2-dioxygenase deficiency
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Homogentisate 1,2-dioxygenase 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

3761212010 Hereditary ochronosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3761213017 Alkaptonuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
476122011 Homogentisicaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
476123018 Deficiency of homogentisate 1,2-dioxygenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
476124012 Deficiency of homogentisate oxygenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
476125013 Homogentisic acid oxidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
476126014 Deficiency of homogentisicase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
476127017 Homogentisate 1,2-dioxygenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
740109011 Homogentisate 1,2-dioxygenase 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
Homogentisate 1,2-dioxygenase deficiency	est un(e) (attribut)	Disorder of tyrosine metabolism (disorder)	true	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ochronosis	est un(e) (attribut)	False	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some
arthrite ochronotique	est un(e) (attribut)	False	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some
ochronose alcaptonurique	Due to	True	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some	2
Alkaptonuria (finding)	Due to	False	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some	1
arthrite ochronotique	Due to	True	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some	3

Reference Sets

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