37183000: Cystinuria, type 1 (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Cystinuria, type 1

\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1

\Metabolic renal disease\Cystinuria\Cystinuria, type 1

\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\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1
\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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\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\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1
\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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\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\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1
\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\Cystinuria, type 1
\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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\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\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1
\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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\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\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1

\General finding of soft tissue\Poor muscle tone\Cystinuria, type 1
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Cystinuria, type 1

\Muscle finding\Muscle tone - finding\Poor muscle tone\Cystinuria, type 1
\Muscle finding\Myopathy\Disorder of skeletal muscle\Cystinuria, type 1

\Musculoskeletal finding\Poor muscle tone\Cystinuria, type 1
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cystinuria, type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Cystinuria, type 1

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Cystinuria, type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cystinuria, type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinuria, type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Cystinuria, type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cystinuria, type 1
\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\Cystinuria, type 1
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Cystinuria, type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cystinuria, type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Cystinuria, type 1
\Disease\Myopathy\Disorder of skeletal muscle\Cystinuria, type 1
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Cystinuria, type 1
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1
\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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1
\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\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\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\Cystinuria, type 1
\Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Amino acid transport disorder\Cystinuria\Cystinuria, type 1
\Disease\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Cystinuria\Cystinuria, type 1
\Disease\Metabolic disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Cystinuria, type 1

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

62033012 Cystinuria, type 1 en Synonym Active Case insensitive SNOMED CT core

62034018 Recessive cystinuria en Synonym Active Case insensitive SNOMED CT core

769020013 Cystinuria, type 1 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cystinuria, type 1	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Cystinuria, type 1	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Cystinuria, type 1	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cystinuria, type 1	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Cystinuria, type 1	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cystinuria, type 1	Interprets	Muscle tone	true	Inferred relationship	Some	3
Cystinuria, type 1	Is a	Poor muscle tone	true	Inferred relationship	Some
Cystinuria, type 1	Is a	Cystinuria	true	Inferred relationship	Some
Cystinuria, type 1	Finding site	Kidney structure	true	Inferred relationship	Some	2
Cystinuria, type 1	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypotonia cystinuria syndrome	Is a	True	Cystinuria, type 1	Inferred relationship	Some
Atypical hypotonia cystinuria syndrome	Is a	True	Cystinuria, type 1	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set