16652001: ziekte van Fabry (aandoening)

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\Vascular lesion of skin\Hemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Hemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Benign neoplasm of skin\Hemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Vascular lesion of skin\Hemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Hemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Vascular lesion of skin\Hemangioma of skin\Angiokeratoma of skin\Fabry's disease

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Fabry's disease

\Metabolic renal disease\Fabry's disease

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
Fabry's disease	Is a	Lipid storage disease	true	Inferred relationship	Some
Fabry's disease	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Fabry's disease	Is a	Sphingolipidosis	true	Inferred relationship	Some
Fabry's disease	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
Fabry's disease	Is a	Neoplastic disease (disorder)	false	Inferred relationship	Some
Fabry's disease	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Fabry's disease	Is a	aandoening van nier bij hereditaire ziekte (aandoening)	false	Inferred relationship	Some
Fabry's disease	Associated morphology	Angiokeratoma	false	Inferred relationship	Some
Fabry's disease	Occurrence	Congenital	true	Inferred relationship	Some	2
Fabry's disease	Finding site	Kidney structure	true	Inferred relationship	Some	3
Fabry's disease	Is a	Angiokeratoma of skin	true	Inferred relationship	Some
Fabry's disease	Is a	Benign neoplasm of trunk	false	Inferred relationship	Some
Fabry's disease	Is a	Neoplasm of urinary system	false	Inferred relationship	Some
Fabry's disease	Is a	Neoplasm of kidney	false	Inferred relationship	Some
Fabry's disease	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Fabry's disease	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Fabry's disease	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	3
Fabry's disease	Associated morphology	Neoplasm	false	Inferred relationship	Some	2
Fabry's disease	Finding site	Skin structure	false	Inferred relationship	Some	1
Fabry's disease	Finding site	Skin structure	false	Inferred relationship	Some	2
Fabry's disease	Associated morphology	Blood vessel tumor	false	Inferred relationship	Some	2
Fabry's disease	Finding site	Skin structure	false	Inferred relationship	Some	3
Fabry's disease	Associated morphology	Angiokeratoma	false	Inferred relationship	Some	1
Fabry's disease	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Fabry's disease	Finding site	Skin structure	false	Inferred relationship	Some	1
Fabry's disease	Associated morphology	Angiokeratoma	true	Inferred relationship	Some	1
Fabry's disease	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Fabry's disease	Associated morphology	Neoplasm	false	Inferred relationship	Some	2
Fabry's disease	Finding site	Skin structure	false	Inferred relationship	Some	2
Fabry's disease	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Fabry's disease	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Fabry's disease	Finding site	Blood vessel structure of skin (body structure)	true	Inferred relationship	Some	1
Fabry's disease	Is a	Congenital vascular disorder (disorder)	false	Inferred relationship	Some
Fabry's disease	Occurrence	Congenital	false	Inferred relationship	Some	1
Fabry's disease	Finding site	Kidney structure	false	Inferred relationship	Some	2
Fabry's disease	Is a	Metabolic renal disease	true	Inferred relationship	Some
Fabry's disease	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Fabry's disease	Is a	Cerebrovascular disease	true	Inferred relationship	Some
Fabry's disease	Finding site	Cerebrovascular system structure	true	Inferred relationship	Some	4
Fabry's disease	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	5
Fabry's disease	Is a	Congenital nephropathy (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
[EDTA] Fabry's disease associated with renal failure	Is a	False	Fabry's disease	Inferred relationship	Some
Autonomic neuropathy due to Fabry disease	Due to	True	Fabry's disease	Inferred relationship	Some	2
Glomerular disease due to Fabry disease	Due to	True	Fabry's disease	Inferred relationship	Some	2

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
28183014	Fabry's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
28184015	Hereditary dystopic lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28185019	Thesaurismosis lipoidica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28186018	Ceramide trihexosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28187010	Lactosyl ceramidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28188017	Ceramide lactoside lipidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28189013	alpha-Galactosidase-A deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
28190016	Angiokeratoma corporis diffusum universale	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28191017	GLA deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
28192012	Thesaurismosis hereditaria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28193019	Cardiovasorenal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
28194013	Ruiter-Pompen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
28195014	Anderson-Fabry disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
28196010	Sweeley-Klionsky disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477882018	Alpha-galactosidase A deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
477883011	Angiokeratoma corporis diffusum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
477884017	Fabry disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
743717013	Fabry's disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1541421000146116	ziekte van Fabry (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1541431000146119	ziekte van Fabry	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3271651000146112	angiokeratoma corporis diffusum	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11035201000146114	alfa-galactosidasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7583501000146118	Dit is een zeldzame, aangeboren erfelijke stofwisselingsziekte waarbij de vetachtige stof globotriaosylceramide niet goed wordt afgebroken en zich opstapelt in cellen en vaatwanden. Dit kan de bloedtoevoer belemmeren en daardoor kunnen afwijkingen aan de huid, ogen, hart, bloedvaten, nieren en het zenuwstelsel ontstaan.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)