49762007: Hereditary factor XI deficiency disease (disorder)

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

\Functional finding\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\...

\Contact factor deficiency\Hereditary factor XI deficiency disease

\Includes both quantitative and qualitative disorders of procoagulants\Factor XI deficiency\Hereditary factor XI deficiency disease
\Includes both quantitative and qualitative disorders of procoagulants\Hemophilia\Hereditary factor XI deficiency disease

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary factor XI deficiency disease
\Disease\Fetal and/or neonatal disorder\Congenital disease\Hereditary factor XI deficiency disease
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Contact factor deficiency\Hereditary factor XI deficiency disease
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Includes both quantitative and qualitative disorders of procoagulants\Factor XI deficiency\Hereditary factor XI deficiency disease
\Disease\Disorder of hemostatic system\Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system.\Includes both quantitative and qualitative disorders of procoagulants\Hemophilia\Hereditary factor XI deficiency disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary factor XI deficiency disease	Is a	Hereditary coagulation factor deficiency	false	Inferred relationship	Some
Hereditary factor XI deficiency disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hereditary factor XI deficiency disease	Is a	Contact factor deficiency	true	Inferred relationship	Some
Hereditary factor XI deficiency disease	Is a	Hemophilia	true	Inferred relationship	Some
Hereditary factor XI deficiency disease	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some
Hereditary factor XI deficiency disease	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary factor XI deficiency disease	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Hereditary factor XI deficiency disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary factor XI deficiency disease	Is a	Congenital disease	true	Inferred relationship	Some
Hereditary factor XI deficiency disease	Is a	Factor XI deficiency	true	Inferred relationship	Some
Hereditary factor XI deficiency disease	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Hereditary factor XI deficiency disease	Interprets	Hemostatic function	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Factor XI deficiency, type II	Is a	True	Hereditary factor XI deficiency disease	Inferred relationship	Some
Factor XI deficiency, type III	Is a	True	Hereditary factor XI deficiency disease	Inferred relationship	Some
Factor XI deficiency, type I	Is a	True	Hereditary factor XI deficiency disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
82886016	Hereditary factor XI deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
82887013	Hemophilia C	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
82888015	Congenital factor XI deficiency disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
82889011	Plasma thromboplastin antecedent deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
82890019	PTA deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
82891015	Rosenthal's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
495497019	Haemophilia C	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
787476012	Hereditary factor XI deficiency disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1230778013	Thromboplastin antecedent deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
814301000241111	déficience congénitale héréditaire en facteur de coagulation XI	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
842551000241115	déficit congénital héréditaire en facteur XI	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2287021000195117	Hämophilie C	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2287031000195115	Rosenthal-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2287041000195111	Angeborene Faktor-XI-Mangelerkrankung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2287051000195114	Hereditäre Faktor-XI-Mangelkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2287061000195112	Kongenitaler Faktor-XI-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2287071000195118	Plasmathromboplastin-Antezedenzien-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2287081000195116	Erbliche Faktor-11-Mangelerkrankung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383971001000119	Faktor XI-Mangel, kongenitaler	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module