410042009: Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)

\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Skin deposits\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Is a	Degenerative disorder	false	Inferred relationship	Some
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Associated morphology	Pigment deposition	true	Inferred relationship	Some	1
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Due to	Homogentisate 1,2-dioxygenase deficiency	true	Inferred relationship	Some	2
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Is a	Disorder of pigmentation (disorder)	false	Inferred relationship	Some
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Is a	Skin deposits	true	Inferred relationship	Some
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Is a	Disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

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Id	Description	Lang	Type	Status	Case?	Module
2465493015	Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2471769016	Alcaptonuric ochronosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2477705016	Pigmentation due to alkaptonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2477706015	Ochronosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2477707012	Alkaptonuric ochronosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2477708019	Ochronosis due to homogentisate 1,2-dioxygenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2477709010	Ochronosis due to alkaptonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5436771000172116	maladie du tissu conjonctif au cours d'une ochronose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5436781000172118	maladie systémique du tissu conjonctif au cours d'une ochronose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14650181000172113	ochronose due à un déficit en homogentisate 1,2-dioxygénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14650191000172111	ochronose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14650201000172114	ochronose due à une alcaptonurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4253141000172113	ochronose door alkaptonurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4253151000172110	ochronose door deficiëntie van homogentisaat-1,2-dioxygenase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4253161000172112	ochronose door deficiëntie van homogentisinezuuroxidase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4253171000172115	ochronose door homogentisinezuuroxidasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4253181000172117	ochronose door homogentisaat-1,2-dioxygenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5436791000172115	ochronose bindweefselziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5436801000172119	bindweefselsysteemziekte bij ochronose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5436811000172116	systemische bindweefselaandoening bij ochronose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)