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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
476122011 Homogentisicaciduria en Synonym Active Entire term case insensitive SNOMED CT core module
476123018 Deficiency of homogentisate 1,2-dioxygenase en Synonym Active Entire term case insensitive SNOMED CT core module
476124012 Deficiency of homogentisate oxygenase en Synonym Active Entire term case insensitive SNOMED CT core module
476125013 Homogentisic acid oxidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
476126014 Deficiency of homogentisicase en Synonym Active Entire term case insensitive SNOMED CT core module
476127017 Homogentisate 1,2-dioxygenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
740109011 Homogentisate 1,2-dioxygenase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3761212010 Hereditary ochronosis en Synonym Active Entire term case insensitive SNOMED CT core module
3761213017 Alkaptonuria en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

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

This concept is not in any reference sets

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