16652001: Fabry's disease (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Hereditary nephropathy\Fabry's disease

\Metabolic renal disease\Fabry's disease

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Benign neoplasm of soft tissue\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Benign neoplasm of soft tissue\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Mass of body structure\Neoplasm of integumentary system\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Mass of body structure\Mass of body region\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Mass of body structure\Mass of cardiovascular structure\Neoplasm of cardiovascular system\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease

\Cardiovascular finding\Mass of cardiovascular structure\Neoplasm of cardiovascular system\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Cardiovascular finding\Cardiovascular disease\Neoplasm of cardiovascular system\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Fabry's disease
\Cardiovascular finding\Cardiovascular disease\Cerebrovascular disease\Fabry's disease
\Cardiovascular finding\Cardiovascular disease\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fabry's disease
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Fabry's disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fabry's disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fabry's disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Fabry's disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Fabry's disease
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of cardiovascular system\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Benign neoplasm of soft tissue\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Benign neoplasm of soft tissue\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Haemangioma\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of soft tissue\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of soft tissue\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fabry's disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fabry's disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Fabry's disease
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Fabry's disease
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Fabry's disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fabry's disease
\Disease\Disorder of body system\Cardiovascular disease\Neoplasm of cardiovascular system\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Fabry's disease
\Disease\Disorder of body system\Cardiovascular disease\Cerebrovascular disease\Fabry's disease
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Fabry's disease
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Fabry's disease
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fabry's disease
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Fabry's disease
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Fabry's disease
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Fabry's disease
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Fabry's disease
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fabry's disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fabry's disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Fabry's disease
\Disease\Metabolic disease\Metabolic renal disease\Fabry's disease
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Fabry's disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Fabry's disease
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Fabry's disease
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fabry's disease
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Fabry's disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Benign neoplasm of soft tissue\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Benign neoplasm of soft tissue\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Haemangioma of skin and subcutaneous tissue\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease
\Disease\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Haemangioma of skin\Angiokeratoma of skin\Fabry's disease

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

28183014 Fabry's disease en Synonym Active Case sensitive SNOMED CT core
28184015 Hereditary dystopic lipidosis en Synonym Active Case insensitive SNOMED CT core
28185019 Thesaurismosis lipoidica en Synonym Active Case insensitive SNOMED CT core
28186018 Ceramide trihexosidase deficiency en Synonym Active Case insensitive SNOMED CT core
28187010 Lactosyl ceramidosis en Synonym Active Case insensitive SNOMED CT core
28188017 Ceramide lactoside lipidosis en Synonym Active Case insensitive SNOMED CT core
28189013 alpha-Galactosidase-A deficiency en Synonym Active Case sensitive SNOMED CT core
28190016 Angiokeratoma corporis diffusum universale en Synonym Active Case insensitive SNOMED CT core
28191017 GLA deficiency en Synonym Active Case sensitive SNOMED CT core
28192012 Thesaurismosis hereditaria en Synonym Active Case insensitive SNOMED CT core
28193019 Cardiovasorenal syndrome en Synonym Active Case insensitive SNOMED CT core
28194013 Ruiter-Pompen syndrome en Synonym Active Case sensitive SNOMED CT core
28195014 Anderson-Fabry disease en Synonym Active Case sensitive SNOMED CT core
28196010 Sweeley-Klionsky disease en Synonym Active Case sensitive SNOMED CT core
477882018 Alpha-galactosidase A deficiency en Synonym Active Case sensitive SNOMED CT core
477883011 Angiokeratoma corporis diffusum en Synonym Active Case insensitive SNOMED CT core
477884017 Fabry disease en Synonym Active Case sensitive SNOMED CT core
743717013 Fabry's disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fabry's disease	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Fabry's disease	Finding site	Blood vessel structure of skin	true	Inferred relationship	Some	1
Fabry's disease	Is a	Congenital vascular 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	true	Inferred relationship	Some	5
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	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	false	Inferred relationship	Some
Fabry's disease	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Fabry's disease	Is a	Renal disorders in inherited disease	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 tumour	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	true	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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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
[EDTA] Fabry's disease associated with renal failure	Is a	False	Fabry's disease	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
28183014	Fabry's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
28184015	Hereditary dystopic lipidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
28185019	Thesaurismosis lipoidica	en	Synonym	Active	Case insensitive	SNOMED CT core
28186018	Ceramide trihexosidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
28187010	Lactosyl ceramidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
28188017	Ceramide lactoside lipidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
28189013	alpha-Galactosidase-A deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
28190016	Angiokeratoma corporis diffusum universale	en	Synonym	Active	Case insensitive	SNOMED CT core
28191017	GLA deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
28192012	Thesaurismosis hereditaria	en	Synonym	Active	Case insensitive	SNOMED CT core
28193019	Cardiovasorenal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
28194013	Ruiter-Pompen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
28195014	Anderson-Fabry disease	en	Synonym	Active	Case sensitive	SNOMED CT core
28196010	Sweeley-Klionsky disease	en	Synonym	Active	Case sensitive	SNOMED CT core
477882018	Alpha-galactosidase A deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
477883011	Angiokeratoma corporis diffusum	en	Synonym	Active	Case insensitive	SNOMED CT core
477884017	Fabry disease	en	Synonym	Active	Case sensitive	SNOMED CT core
743717013	Fabry's disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core