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720950009: Familial thrombocytosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322607010 Familial thrombocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322608017 Familial thrombocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322609013 Familial thrombocythemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322610015 Hereditary thrombocythaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322611016 Hereditary thrombocythemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322612011 Familial thrombocythaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402521013 Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402522018 Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322607010 Familial thrombocytosis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322607010 Familial thrombocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322608017 Familial thrombocytosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322608017 Familial thrombocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322609013 Familial thrombocythemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322609013 Familial thrombocythemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322610015 Hereditary thrombocythaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322610015 Hereditary thrombocythaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322611016 Hereditary thrombocythemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322611016 Hereditary thrombocythemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322612011 Familial thrombocythaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322612011 Familial thrombocythaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322613018 A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322614012 A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402521013 Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402522018 Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433011001000112 Thrombozytose, familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870831000172119 thrombocytémie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995931000172118 thrombocytose familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870831000172119 thrombocytémie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995931000172118 thrombocytose familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433011001000112 Thrombozytose, familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial thrombocytosis (disorder) Is a Thrombocytosis true Inferred relationship Existential restriction modifier (core metadata concept)
Familial thrombocytosis (disorder) Is a Inherited platelet disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial thrombocytosis (disorder) Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial thrombocytosis (disorder) Has definitional manifestation Platelet count above reference range (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Familial thrombocytosis (disorder) Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial thrombocytosis (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial thrombocytosis (disorder) Interprets Hemostatic function false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial thrombocytosis (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial thrombocytosis (disorder) Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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