50056009: Dibasic amino aciduria type 1 (disorder)

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

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

\Hereditary nephropathy (disorder)\Dibasic amino aciduria type 1 (disorder)

\Specific renal tubule transport defect\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)

\Metabolic renal disease\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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 urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Dibasic amino aciduria type 1 (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 urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Specific renal tubule transport defect\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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 urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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 urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Dibasic amino aciduria type 1 (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Dibasic amino aciduria type 1 (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Dibasic amino aciduria type 1 (disorder)

\Disease\Genetic disease\Genetic intellectual disability\Dibasic amino aciduria type 1 (disorder)
\Disease\Genetic disease\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dibasic amino aciduria type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dibasic amino aciduria type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dibasic amino aciduria type 1 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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\Dibasic amino aciduria type 1 (disorder)
\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)\Dibasic amino aciduria type 1 (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\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)
\Disease\Metabolic disease\Metabolic disorder of transport\Amino acid transport disorder\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)
\Disease\Metabolic disease\Metabolic renal disease\Dibasic aminoaciduria\Dibasic amino aciduria type 1 (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Dibasic amino aciduria type 1 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Dibasic amino aciduria type 1 (disorder)

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

83379013 Lysinuric protein intolerance, type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495577010 Dibasic aminoaciduria - type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
787802018 Lysinuric protein intolerance, type 1 (disorder) en Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
5480484013 Dibasic amino aciduria type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5480485014 Dibasic amino aciduria type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5480486010 Dibasic amino aciduria type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dibasic amino aciduria type 1 (disorder)	Is a	Lysinuric protein intolerance	false	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Is a	Lysinuric protein intolerance	false	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Is a	Genetic intellectual disability	true	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Is a	Dibasic aminoaciduria	true	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Dibasic amino aciduria type 1 (disorder)	Finding site	Kidney structure	true	Inferred relationship	Some	3
Dibasic amino aciduria type 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Dibasic amino aciduria type 1 (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	1
Dibasic amino aciduria type 1 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	1
Dibasic amino aciduria type 1 (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	2
Dibasic amino aciduria type 1 (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets