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

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

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

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Homogentisate 1,2-dioxygenase deficiency
\Metabolic disease\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

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

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

5314993018 HGD-gene related homogentisate 1,2-dioxygenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Homogentisate 1,2-dioxygenase deficiency	Is a	Disorder of tyrosine metabolism	true	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Homogentisate 1,2-dioxygenase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ochronosis	Is a	False	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some
Ochronotic arthritis	Is a	False	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Due to	True	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some	2
Alkaptonuria	Due to	False	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some	1
Ochronotic arthritis	Due to	True	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some	3
Arthritis due to alkaptonuria (disorder)	Due to	True	Homogentisate 1,2-dioxygenase deficiency	Inferred relationship	Some	3

This concept is not in any reference sets