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

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

\Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow (disorder)\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Mass of body structure\Mass of lymphoreticular structure\Neoplasm of bone marrow (disorder)\Primary malignant neoplasm of bone marrow\Primary familial polycythemia due to erythropoietin receptor mutation
\Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Mass of body structure\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Primary malignant neoplasm of bone marrow\Primary familial polycythemia due to erythropoietin receptor mutation

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

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

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

\Procedure related finding\Evaluation finding\...

\Finding of cellular component of blood (finding)\Red blood cell finding\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation

\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count above reference range (finding)\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\Red blood cell count above reference range (finding)\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count above reference range (finding)\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation

\Hematopoietic system finding\Red blood cell finding\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of hematopoietic cell proliferation (disorder)\Myeloproliferative disorder (disorder)\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Malignant tumour of lymphoid haemopoietic and related tissue\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Primary malignant neoplasm (disorder)\Primary malignant neoplasm of bone marrow\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Malignant tumour of lymphoid haemopoietic and related tissue\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Primary malignant neoplasm of bone marrow\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Neoplasm affecting hematopoietic structure (disorder)\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Neoplasm affecting hematopoietic structure (disorder)\Primary malignant neoplasm of bone marrow\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Myeloproliferative disorder (disorder)\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Neoplasm of bone marrow (disorder)\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Neoplasm of bone marrow (disorder)\Primary malignant neoplasm of bone marrow\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Chronic myeloproliferative disorder (clinical)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Primary malignant neoplasm of bone marrow\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\Disorder of body system\Red blood cell disorder\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564091018 Primary familial polycythaemia due to erythropoietin receptor mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564092013 Primary familial polycythemia due to erythropoietin receptor mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

14481751000172117 polycythémie primaire familiale due à une mutation du récepteur de l'EPO (érythropoïétine) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14481761000172115 polycythémie primaire familiale due à une mutation du récepteur de l'érythropoïétine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4056081000172118 primaire familiaire polycytemie door mutatie van erytropoëtinereceptor nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14573801000172114 primaire familiale polycytemie door mutatie van erytropoëtinereceptor nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary familial polycythemia due to erythropoietin receptor mutation	Finding site	Bone marrow structure	true	Inferred relationship	Some	4
Primary familial polycythemia due to erythropoietin receptor mutation	Finding site	Erythrocyte	true	Inferred relationship	Some	3
Primary familial polycythemia due to erythropoietin receptor mutation	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Primary familial polycythemia due to erythropoietin receptor mutation	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Primary familial polycythemia due to erythropoietin receptor mutation	Associated morphology	Polycythemia vera	true	Inferred relationship	Some	4
Primary familial polycythemia due to erythropoietin receptor mutation	Interprets	Hematology procedure	true	Inferred relationship	Some	1
Primary familial polycythemia due to erythropoietin receptor mutation	Is a	Familial polycythemia vera	true	Inferred relationship	Some
Primary familial polycythemia due to erythropoietin receptor mutation	Pathological process (attribute)	Malignant proliferation of primary neoplasm (qualifier value)	true	Inferred relationship	Some	4
Primary familial polycythemia 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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4564090017	Primary familial polycythemia due to erythropoietin receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4564091018	Primary familial polycythaemia due to erythropoietin receptor mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4564092013	Primary familial polycythemia due to erythropoietin receptor mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
14481751000172117	polycythémie primaire familiale due à une mutation du récepteur de l'EPO (érythropoïétine)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14481761000172115	polycythémie primaire familiale due à une mutation du récepteur de l'érythropoïétine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4056081000172118	primaire familiaire polycytemie door mutatie van erytropoëtinereceptor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14573801000172114	primaire familiale polycytemie door mutatie van erytropoëtinereceptor	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)