770947009: neutropénie congénitale sévère autosomique dominante (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\neutropénie\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Neutrophil count abnormal\neutropénie\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\neutropénie\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\neutropénie\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \White blood cell number - finding\White blood cell count abnormal (finding)\...
• \Decreased blood leukocyte number (finding)\Granulocyte count below reference range (finding)\neutropénie\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Decreased blood leukocyte number (finding)\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Neutrophil count abnormal\neutropénie\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\...
• \Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\Genetic disease\maladie héréditaire\syndrome familial avec prédisposition aux cancers (trouble)\Autosomal dominant severe congenital neutropaenia
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant severe congenital neutropaenia
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal dominant severe congenital neutropaenia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703563012	Autosomal dominant severe congenital neutropaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703564018	Autosomal dominant severe congenital neutropenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703565017	Autosomal dominant severe congenital neutropenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
770101000241114	neutropénie congénitale sévère autosomique dominante (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
990311000172115	neutropénie congénitale sévère autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3703566016	A rare primary immunodeficiency disorder with characteristics of autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset severe recurrent bacterial infections.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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