721173005: hypotonie-cystinuriesyndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)

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

\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)

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

\Muscle finding\Muscle tone - finding\Poor muscle tone (finding)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Muscle finding\Disorder of muscle\Hereditary myopathy (disorder)\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Cystinuria, type 1\Hypotonia cystinuria syndrome (disorder)

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3324523018 Hypotonia cystinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6039621000146116 hypotonie-cystinuriesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6039631000146119 hypotonie-cystinuriesyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets