1153349004: Primary familial polycythemia due to erythropoietin receptor mutation (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Finding of cellular component of blood\Red blood cell finding\Erythrocytosis\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count raised\Erythrocytosis\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\RBC count raised\Erythrocytosis\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count raised\Erythrocytosis\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Evaluation finding\Haematopoietic system finding\Red blood cell finding\Erythrocytosis\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation

\Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow\Primary malignant neoplasm of bone marrow\Primary familial polycythaemia due to erythropoietin receptor mutation
\Mass of body structure\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Mass of body structure\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Primary malignant neoplasm of bone marrow\Primary familial polycythaemia due to erythropoietin receptor mutation

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation

\Red blood cell disorder\Hereditary red blood cell disorder\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of haematopoietic morphology\Myeloproliferative disorder\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Blood disease\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of haematopoietic cell type\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Malignant neoplastic disease\Primary malignant neoplasm\Primary malignant neoplasm of bone marrow\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Malignant neoplastic disease\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Primary malignant neoplasm of bone marrow\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of haematopoietic structure\Neoplasm affecting haematopoietic structure\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of haematopoietic structure\Neoplasm affecting haematopoietic structure\Primary malignant neoplasm of bone marrow\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Myeloproliferative disorder\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Neoplasm of bone marrow\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Neoplasm of bone marrow\Primary malignant neoplasm of bone marrow\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Chronic myeloproliferative disorder\Polycythaemia vera\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Haematologic neoplasm\Neoplasm affecting haematopoietic structure\Primary malignant neoplasm of bone marrow\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Familial polycythaemia vera\Primary familial polycythaemia due to erythropoietin receptor mutation

Status: current, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4564090017 Primary familial polycythemia due to erythropoietin receptor mutation en Synonym Active Case insensitive SNOMED CT core

4564091018 Primary familial polycythaemia due to erythropoietin receptor mutation en Synonym Active Case insensitive SNOMED CT core

4564092013 Primary familial polycythemia due to erythropoietin receptor mutation (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary familial polycythaemia due to erythropoietin receptor mutation	Finding site	Bone marrow structure	true	Inferred relationship	Some	4
Primary familial polycythaemia due to erythropoietin receptor mutation	Finding site	Erythrocyte	true	Inferred relationship	Some	3
Primary familial polycythaemia due to erythropoietin receptor mutation	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Primary familial polycythaemia due to erythropoietin receptor mutation	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Primary familial polycythaemia due to erythropoietin receptor mutation	Associated morphology	Polycythaemia vera	true	Inferred relationship	Some	4
Primary familial polycythaemia due to erythropoietin receptor mutation	Interprets	Haematology procedure	true	Inferred relationship	Some	1
Primary familial polycythaemia due to erythropoietin receptor mutation	Is a	Familial polycythaemia vera	true	Inferred relationship	Some
Primary familial polycythaemia due to erythropoietin receptor mutation	Pathological process	Primary malignant neoplastic proliferation	true	Inferred relationship	Some	4
Primary familial polycythaemia due to erythropoietin receptor mutation	Is a	Primary malignant neoplasm of bone marrow	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4564090017	Primary familial polycythemia due to erythropoietin receptor mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
4564091018	Primary familial polycythaemia due to erythropoietin receptor mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
4564092013	Primary familial polycythemia due to erythropoietin receptor mutation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core