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\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \White blood cell number - finding\White blood cell count abnormal\...
• \Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Finding of blood, lymphatics and immune system\Blood disease\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 G6PC3 deficiency
• \Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive severe congenital neutropenia due to G6PC3 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 G6PC3 deficiency
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 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 G6PC3 deficiency
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Disease\Blood disease\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 G6PC3 deficiency
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

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	Case insensitive	SNOMED CT core
3757272013	Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757273015	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757274014	Severe congenital neutropenia type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3757276011	Severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3757277019	A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (for example atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (for example frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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