303852004: Lysinuric protein intolerance (disorder)

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

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

\Hereditary nephropathy (disorder)\Lysinuric protein intolerance

\Specific renal tubule transport defect\Dibasic aminoaciduria\Lysinuric protein intolerance

\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance

\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)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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 urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\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 urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Dibasic aminoaciduria\Lysinuric protein intolerance
\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 urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\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 urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\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)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\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)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lysinuric protein intolerance

\Disease\Genetic disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Lysinuric protein intolerance
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lysinuric protein intolerance
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Lysinuric protein intolerance
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Dibasic aminoaciduria\Lysinuric protein intolerance
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\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)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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)\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Dibasic aminoaciduria\Lysinuric protein intolerance
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lysinuric protein intolerance
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Lysinuric protein intolerance
\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\Dibasic aminoaciduria\Lysinuric protein intolerance
\Disease\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Dibasic aminoaciduria\Lysinuric protein intolerance
\Disease\Metabolic disease\Metabolic renal disease\Dibasic aminoaciduria\Lysinuric protein intolerance

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

446071014 Lysinuric protein intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
446072019 Hyperdibasic aminoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
446073012 LPI - Lysinuric protein intolerance en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
446074018 Congenital lysinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
700084016 Lysinuric protein intolerance (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5480315019 Dibasic amino aciduria II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lysinuric protein intolerance	Is a	Amino acid transport disorder	false	Inferred relationship	Some
Lysinuric protein intolerance	Finding site	Body system structure	false	Inferred relationship	Some
Lysinuric protein intolerance	Occurrence	Congenital	false	Inferred relationship	Some
Lysinuric protein intolerance	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lysinuric protein intolerance	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Lysinuric protein intolerance	Occurrence	Congenital	true	Inferred relationship	Some	1
Lysinuric protein intolerance	Is a	Dibasic aminoaciduria	true	Inferred relationship	Some
Lysinuric protein intolerance	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Lysinuric protein intolerance	Finding site	Kidney structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dibasic aminoaciduria	Is a	False	Lysinuric protein intolerance	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Is a	False	Lysinuric protein intolerance	Inferred relationship	Some
Lysinuric protein intolerance, type 2	Is a	False	Lysinuric protein intolerance	Inferred relationship	Some

This concept is not in any reference sets