783058007: Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Finding of white blood cell number\White blood cell count outside reference range\...
• \Blood leukocyte number below reference range\Granulocyte count below reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Blood leukocyte number below reference range\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \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 glucose-6-phosphatase catalytic subunit 3 deficiency
• \Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Disease\Disorder of immune function\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 glucose-6-phosphatase catalytic subunit 3 deficiency
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Disease\Disorder of immune function\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 glucose-6-phosphatase catalytic subunit 3 deficiency
• \Disease\Disorder of immune function\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 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 glucose-6-phosphatase catalytic subunit 3 deficiency
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Leukopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757270017	Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3757272013	Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3757273015	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3757274014	Severe congenital neutropenia type 4	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3757276011	Severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

Back to Start