37183000: Cystinuria, type 1 (disorder)

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

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

\Hereditary nephropathy (disorder)\Cystinuria, type 1

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

\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1
\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
\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 (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Specific renal tubule transport defect (disorder)\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Cystinuria (disorder)\Cystinuria, type 1
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\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 (finding)\Finding of muscle tone (finding)\Poor muscle tone\Cystinuria, type 1
\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Cystinuria, type 1

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

62033012 Cystinuria, type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

62034018 Recessive cystinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769020013 Cystinuria, type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

62033012 Cystinuria, type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

62033012 Cystinuria, type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

62034018 Recessive cystinuria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

62034018 Recessive cystinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

769020013 Cystinuria, type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

769020013 Cystinuria, type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4511261000241114 cystinurie de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4511261000241114 cystinurie de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypotonia cystinuria syndrome (disorder)	Is a	True	Cystinuria, type 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Atypical hypotonia cystinuria syndrome (disorder)	Is a	True	Cystinuria, type 1	Inferred relationship	Existential restriction modifier (core metadata concept)
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	Is a	True	Cystinuria, type 1	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets