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16652001: Fabry's disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fabry's disease Is a Lipid storage disease true Inferred relationship Existential restriction modifier
Fabry's disease Is a X-linked hereditary disease true Inferred relationship Existential restriction modifier
Fabry's disease Is a Sphingolipidosis true Inferred relationship Existential restriction modifier
Fabry's disease Is a Congenital anomaly of trunk false Inferred relationship Existential restriction modifier
Fabry's disease Is a Neoplastic disease false Inferred relationship Existential restriction modifier
Fabry's disease Is a Hereditary disorder of the urinary system false Inferred relationship Existential restriction modifier
Fabry's disease Is a Renal disorders in inherited disease false Inferred relationship Existential restriction modifier
Fabry's disease Associated morphology Angiokeratoma false Inferred relationship Existential restriction modifier
Fabry's disease Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Fabry's disease Finding site Kidney structure true Inferred relationship Existential restriction modifier 3
Fabry's disease Is a Angiokeratoma of skin true Inferred relationship Existential restriction modifier
Fabry's disease Is a Benign neoplasm of trunk false Inferred relationship Existential restriction modifier
Fabry's disease Is a Neoplasm of urinary system false Inferred relationship Existential restriction modifier
Fabry's disease Is a Neoplasm of kidney false Inferred relationship Existential restriction modifier
Fabry's disease Is a Hereditary disorder of the integument true Inferred relationship Existential restriction modifier
Fabry's disease Is a Congenital anomaly of integument false Inferred relationship Existential restriction modifier
Fabry's disease Associated morphology Hyperkeratosis false Inferred relationship Existential restriction modifier 3
Fabry's disease Associated morphology Neoplasm false Inferred relationship Existential restriction modifier 2
Fabry's disease Finding site Skin structure false Inferred relationship Existential restriction modifier 1
Fabry's disease Finding site Skin structure false Inferred relationship Existential restriction modifier 2
Fabry's disease Associated morphology Blood vessel tumor false Inferred relationship Existential restriction modifier 2
Fabry's disease Finding site Skin structure false Inferred relationship Existential restriction modifier 3
Fabry's disease Associated morphology Angiokeratoma false Inferred relationship Existential restriction modifier 1
Fabry's disease Is a Disorder of soft tissue of body cavity false Inferred relationship Existential restriction modifier
Fabry's disease Finding site Skin structure false Inferred relationship Existential restriction modifier 1
Fabry's disease Associated morphology Angiokeratoma true Inferred relationship Existential restriction modifier 1
Fabry's disease Is a Disorder of soft tissue of body cavity false Inferred relationship Existential restriction modifier
Fabry's disease Associated morphology Neoplasm false Inferred relationship Existential restriction modifier 2
Fabry's disease Finding site Skin structure false Inferred relationship Existential restriction modifier 2
Fabry's disease Is a Hereditary nephropathy true Inferred relationship Existential restriction modifier
Fabry's disease Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Fabry's disease Finding site Blood vessel structure of skin true Inferred relationship Existential restriction modifier 1
Fabry's disease Is a Congenital vascular disorder false Inferred relationship Existential restriction modifier
Fabry's disease Occurrence Congenital false Inferred relationship Existential restriction modifier 1
Fabry's disease Finding site Kidney structure false Inferred relationship Existential restriction modifier 2
Fabry's disease Is a Metabolic renal disease true Inferred relationship Existential restriction modifier
Fabry's disease Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier
Fabry's disease Is a Cerebrovascular disease true Inferred relationship Existential restriction modifier
Fabry's disease Finding site Cerebrovascular system structure true Inferred relationship Existential restriction modifier 4
Fabry's disease Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 5
Inbound Relationships Type Active Source Characteristic Refinability Group
[EDTA] Fabry's disease associated with renal failure Is a False Fabry's disease Inferred relationship Existential restriction modifier
Autonomic neuropathy due to Fabry disease Due to True Fabry's disease Inferred relationship Existential restriction modifier 2
Glomerular disease due to Fabry disease Due to True Fabry's disease Inferred relationship Existential restriction modifier 2

This concept is not in any reference sets

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