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360378009: deficiëntie van homogentisaat-1,2-dioxygenase (aandoening)


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
6033481000146115 alkaptonurie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10137421000146110 homogentisinezuuroxidasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11265381000146111 deficiëntie van homogentisaat-1,2-dioxygenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11265391000146113 deficiëntie van homogentisaat-1,2-dioxygenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11265401000146111 deficiëntie van homogentisinezuuroxidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9522171000146113 Zeer zeldzame, erfelijke stofwisselingsziekte waarbij er te veel aan homogentisinezuur in het lichaam blijft zitten, wat onder meer leidt tot blauwe tot zwarte verkleuring van urine, kraakbeenstructuren en oogbol. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


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 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
Homogentisate 1,2-dioxygenase deficiency Is a Hereditary metabolic disease false 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
alkaptonurie 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

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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