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16652001: Fabry's disease (disorder)


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

Descriptions:

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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fabry's disease est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Fabry's disease localisation d'une constatation (attribut) vaisseau sanguin cutané true Inferred relationship Some 1
Fabry's disease est un(e) (attribut) Congenital vascular disorder (disorder) false Inferred relationship Some
Fabry's disease survenue (attribut) congénital false Inferred relationship Some 1
Fabry's disease localisation d'une constatation (attribut) structure d'un rein false Inferred relationship Some 2
Fabry's disease est un(e) (attribut) maladie métabolique du rein true Inferred relationship Some
Fabry's disease est un(e) (attribut) Angiokeratoma of skin true Inferred relationship Some
Fabry's disease est un(e) (attribut) Benign neoplasm of trunk false Inferred relationship Some
Fabry's disease est un(e) (attribut) Neoplasm of urinary system false Inferred relationship Some
Fabry's disease est un(e) (attribut) Neoplasm of kidney false Inferred relationship Some
Fabry's disease est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Fabry's disease est un(e) (attribut) Congenital anomaly of integument false Inferred relationship Some
Fabry's disease est un(e) (attribut) maladie de surchage lipidique true Inferred relationship Some
Fabry's disease est un(e) (attribut) X-linked hereditary disease true Inferred relationship Some
Fabry's disease est un(e) (attribut) Sphingolipidosis true Inferred relationship Some
Fabry's disease est un(e) (attribut) Congenital anomaly of trunk false Inferred relationship Some
Fabry's disease est un(e) (attribut) maladie néoplasique false Inferred relationship Some
Fabry's disease est un(e) (attribut) Hereditary disorder of the urinary system false Inferred relationship Some
Fabry's disease est un(e) (attribut) Renal disorders in inherited disease false Inferred relationship Some
Fabry's disease morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 3
Fabry's disease morphologie associée (attribut) Neoplasm false Inferred relationship Some 2
Fabry's disease localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Fabry's disease localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Fabry's disease morphologie associée (attribut) Blood vessel tumor false Inferred relationship Some 2
Fabry's disease localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Fabry's disease morphologie associée (attribut) Angiokeratoma false Inferred relationship Some 1
Fabry's disease est un(e) (attribut) Disorder of soft tissue of body cavity false Inferred relationship Some
Fabry's disease localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Fabry's disease morphologie associée (attribut) Angiokeratoma true Inferred relationship Some 1
Fabry's disease est un(e) (attribut) Disorder of soft tissue of body cavity false Inferred relationship Some
Fabry's disease morphologie associée (attribut) Neoplasm false Inferred relationship Some 2
Fabry's disease localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Fabry's disease est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Fabry's disease morphologie associée (attribut) Angiokeratoma false Inferred relationship Some
Fabry's disease survenue (attribut) congénital true Inferred relationship Some 2
Fabry's disease localisation d'une constatation (attribut) structure d'un rein 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 est un(e) (attribut) False Fabry's disease Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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