723995003: Schimke immuno-osseous dysplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Schimke immuno-osseous dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Schimke immuno-osseous dysplasia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Schimke immuno-osseous dysplasia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Schimke immuno-osseous dysplasia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Schimke immuno-osseous dysplasia
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Schimke immuno-osseous dysplasia
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Schimke immuno-osseous dysplasia
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Inflammatory disorder of genitourinary system\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Glomerular disease\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Disorder of renal parenchyma\Nephritis\Glomerulonephritis\Schimke immuno-osseous dysplasia
• \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\Schimke immuno-osseous dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Congenital disease\Congenital immunodeficiency disease\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Developmental disorder\Developmental hereditary disorder\Schimke immuno-osseous dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Immuno-osseous dysplasia\Schimke immuno-osseous dysplasia

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3428408016	Schimke immuno-osseous dysplasia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3428409012	Schimke immuno-osseous dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3428410019	Schimke immunoosseous dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3428411015	Schimke syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3428412010	A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Caused by mutations in the SMARCAL1 gene (2q35), which encodes the chromatin remodeling protein hHARP (also known as the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1). An autosomal recessive disorder.	en	Definition	Active	Case sensitive	SNOMED CT core
3428413017	A multisystem disorder characterised by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Caused by mutations in the SMARCAL1 gene (2q35), which encodes the chromatin remodelling protein hHARP (also known as the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1). An autosomal recessive disorder.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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