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

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Finding of cellular component of blood (finding)\constatation à propos de la lignée rouge\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\Red blood cell count raised (finding)\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\Red blood cell count raised (finding)\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\Red blood cell count raised (finding)\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Evaluation finding\Hematopoietic system finding\constatation à propos de la lignée rouge\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation

\masse d'une structure corporelle\masse d'une structure lymphoréticulaire\Neoplasm of bone marrow (disorder)\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\masse d'une structure corporelle\masse d'une structure lymphoréticulaire\Neoplasm of bone marrow (disorder)\Primary malignant neoplasm of bone marrow\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\masse d'une structure corporelle\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\masse d'une structure corporelle\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Primary malignant neoplasm of bone marrow\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation

\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...

\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation

\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\anomalie de la lignée rouge\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\trouble de la morphologie hématopoïétique\syndrome myéloprolifératif\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Erythrocytosis\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\néoplasme et/ou hamartome\maladie néoplasique\Neoplasm of hematopoietic cell type (disorder)\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\néoplasme et/ou hamartome\maladie néoplasique\Malignant neoplastic disease (disorder)\Primary malignant neoplasm (disorder)\Primary malignant neoplasm of bone marrow\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\néoplasme et/ou hamartome\maladie néoplasique\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\néoplasme et/ou hamartome\maladie néoplasique\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Primary malignant neoplasm of bone marrow\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\affection du système hématopoïétique\Neoplasm affecting hematopoietic structure (disorder)\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\affection du système hématopoïétique\Neoplasm affecting hematopoietic structure (disorder)\Primary malignant neoplasm of bone marrow\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\affection du système hématopoïétique\Bone marrow disorder\syndrome myéloprolifératif\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\affection du système hématopoïétique\Bone marrow disorder\Neoplasm of bone marrow (disorder)\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\affection du système hématopoïétique\Bone marrow disorder\Neoplasm of bone marrow (disorder)\Primary malignant neoplasm of bone marrow\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\syndrome myéloprolifératif chronique (clinique)\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\Hematologic neoplasm\Neoplasm affecting hematopoietic structure (disorder)\Primary malignant neoplasm of bone marrow\Polycythemia vera (clinical)\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Familial erythrocytosis\Familial polycythemia vera\Primary familial polycythemia due to erythropoietin receptor mutation
\Disease\affection d'un système corporel\anomalie de la lignée rouge\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary familial polycythemia due to erythropoietin receptor mutation	localisation d'une constatation (attribut)	Bone marrow structure	true	Inferred relationship	Some	4
Primary familial polycythemia due to erythropoietin receptor mutation	localisation d'une constatation (attribut)	Erythrocyte	true	Inferred relationship	Some	3
Primary familial polycythemia due to erythropoietin receptor mutation	interprète (attribut)	Red blood cell count	true	Inferred relationship	Some	2
Primary familial polycythemia due to erythropoietin receptor mutation	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	2
Primary familial polycythemia due to erythropoietin receptor mutation	morphologie associée (attribut)	Polycythemia vera	true	Inferred relationship	Some	4
Primary familial polycythemia due to erythropoietin receptor mutation	interprète (attribut)	Haematology procedure	true	Inferred relationship	Some	1
Primary familial polycythemia due to erythropoietin receptor mutation	est un(e) (attribut)	Familial polycythemia vera	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