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

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
476122011 Homogentisicaciduria en Synonym (core metadata concept) Active Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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
3435661001000118 Alkaptonurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6014331000241117 alcaptonurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6014341000241110 déficit en homogentisate 1,2 dioxygénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6014331000241117 alcaptonurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6014341000241110 déficit en homogentisate 1,2 dioxygénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435661001000118 Alkaptonurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Homogentisate 1,2-dioxygenase deficiency (disorder) Is a Disorder of tyrosine metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Homogentisate 1,2-dioxygenase deficiency (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Homogentisate 1,2-dioxygenase deficiency (disorder) Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Homogentisate 1,2-dioxygenase deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Homogentisate 1,2-dioxygenase deficiency (disorder) Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Ochronosis Is a False Homogentisate 1,2-dioxygenase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ochronotic arthritis Is a False Homogentisate 1,2-dioxygenase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder) Due to True Homogentisate 1,2-dioxygenase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Alkaptonuria Due to False Homogentisate 1,2-dioxygenase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ochronotic arthritis Due to True Homogentisate 1,2-dioxygenase deficiency (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3

This concept is not in any reference sets

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