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

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:

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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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)
6104381000146112	deficiëntie van homogentisaat 1,2-dioxygenase	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7542801000146118	homogentisinezuuroxidase-deficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7542811000146116	homogentisaat-1,2-dioxygenasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8720751000146116	homogentisinezuuroxidase-deficiëntie (aandoening)	nl	Fully specified name	Inactive	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)
10137431000146112	homogentisinezuuroxidasedeficiëntie (aandoening)	nl	Fully specified name	Inactive	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)