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1172699002: Hereditary thrombocytopenia with early-onset myelofibrosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4635447014 Hereditary thrombocytopenia with early-onset myelofibrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635448016 Hereditary thrombocytopenia with early-onset myelofibrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399402018 A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399403011 A rare syndromic constitutional thrombocytopenia characterised by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-haematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635447014 Hereditary thrombocytopenia with early-onset myelofibrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635448016 Hereditary thrombocytopenia with early-onset myelofibrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4635449012 A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes and wide nostrils. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4635450012 A rare syndromic constitutional thrombocytopenia characterised by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-haematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes and wide nostrils. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399402018 A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399403011 A rare syndromic constitutional thrombocytopenia characterised by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-haematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3386681001000116 Hereditäre Thrombozytopenie mit früh-beginnender Myelofibrose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6248111000241118 thrombocytopénie héréditaire avec myélofibrose à début précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6248121000241113 thrombocytopénie héréditaire avec myélofibrose d'apparition précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6248111000241118 thrombocytopénie héréditaire avec myélofibrose à début précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6248121000241113 thrombocytopénie héréditaire avec myélofibrose d'apparition précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386681001000116 Hereditäre Thrombozytopenie mit früh-beginnender Myelofibrose 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
Hereditary thrombocytopenia with early-onset myelofibrosis Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombocytopenia with early-onset myelofibrosis Is a Hereditary thrombocytopenic disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombocytopenia with early-onset myelofibrosis Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary thrombocytopenia with early-onset myelofibrosis Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary thrombocytopenia with early-onset myelofibrosis Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary thrombocytopenia with early-onset myelofibrosis Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary thrombocytopenia with early-onset myelofibrosis Has interpretation Below reference range 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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