775909002: Congenital neutropenia, myelofibrosis, nephromegaly syndrome (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\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \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\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \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\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \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\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \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\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Viscus structure finding\Abdominal organ finding\...
• \Abdominal organomegaly\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Kidney finding\Kidney disease\...
• \Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Abdominal organomegaly\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Abdominal organomegaly\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Abdominal organomegaly\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Abdominal organomegaly\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \White blood cell disorder\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \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\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Myelofibrosis\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Abdominal organomegaly\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital enlarged kidney\Congenital neutropenia, myelofibrosis, nephromegaly syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3736324010	Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3736325011	Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3736326012	VPS45 deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3736327015	Congenital neutropenia, myelofibrosis, nephromegaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3736328013	A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q.	en	Definition	Active	Case sensitive	SNOMED CT core
3736329017	A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinaemia, anaemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q.	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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