721173005: Hypotonia cystinuria syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary nephropathy\Cystinuria, type 1\Hypotonia cystinuria syndrome

\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome

\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Cystinuria, type 1\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria syndrome

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Cystinuria, type 1\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria 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\Specific renal tubule transport defect\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria 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\Cystinuria, type 1\Hypotonia cystinuria syndrome
\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\Hypotonia cystinuria syndrome
\Disease\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Metabolic disease\Metabolic renal disease\Cystinuria\Cystinuria, type 1\Hypotonia cystinuria syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Cystinuria, type 1\Hypotonia cystinuria syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3324522011 Hypotonia cystinuria syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3324523018 Hypotonia cystinuria syndrome en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypotonia cystinuria syndrome	Interprets	Muscle tone	true	Inferred relationship	Some	3
Hypotonia cystinuria syndrome	Is a	Cystinuria, type 1	true	Inferred relationship	Some
Hypotonia cystinuria syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Hypotonia cystinuria syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	2
Hypotonia cystinuria syndrome	Is a	Amino acid transport disorder	false	Inferred relationship	Some
Hypotonia cystinuria syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set