783199003: Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\White blood cell disorder\...
• \Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \White blood cell number - finding\White cell count abnormal\...
• \Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3758058014	Autosomal recessive severe congenital neutropenia due to JAGN1 (jagunal homolog 1) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758059018	Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758060011	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758061010	Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758062015	A rare genetic primary immunodeficiency disorder with characteristics of early-onset recurrent severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (such as triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3758058014	Autosomal recessive severe congenital neutropenia due to JAGN1 (jagunal homolog 1) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758059018	Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758060011	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3758061010	Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758062015	A rare genetic primary immunodeficiency disorder with characteristics of early-onset recurrent severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (such as triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities may also be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3449911001000114	Neutropenie, kongenitale schwere, autosomal-rezessive, durch JAGN1-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5807031000241110	neutropénie congénitale sévère autosomique récessive due à un déficit en JAGN1 (jagunal homolog 1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5807041000241117	neutropénie congénitale sévère autosomique récessive due à un déficit en 'jagunal homolog 1'	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5807031000241110	neutropénie congénitale sévère autosomique récessive due à un déficit en JAGN1 (jagunal homolog 1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5807041000241117	neutropénie congénitale sévère autosomique récessive due à un déficit en 'jagunal homolog 1'	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449911001000114	Neutropenie, kongenitale schwere, autosomal-rezessive, durch JAGN1-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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