717767009: Alport syndrome autosomal recessive (disorder)

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

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

\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)

\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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\Disorder of renal parenchyma (disorder)\Nephritis\Glomerulonephritis\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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)\Hereditary nephritis (disorder)\Alport syndrome (disorder)\Alport syndrome autosomal recessive (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

3310202018 Alport syndrome autosomal recessive (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312046012 Alport syndrome autosomal recessive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
941271000172119 syndrome d'Alport autosomique récessif fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
899421000172118 autosomaal recessief syndroom van Alport nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
995201000172119 autosomaal recessief Alport-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alport syndrome autosomal recessive (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Alport syndrome autosomal recessive (disorder)	Is a	Hereditary nephritis (disorder)	false	Inferred relationship	Some
Alport syndrome autosomal recessive (disorder)	Associated morphology	Chronic inflammation	true	Inferred relationship	Some	1
Alport syndrome autosomal recessive (disorder)	Finding site	Glomerulus structure	true	Inferred relationship	Some	1
Alport syndrome autosomal recessive (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Alport syndrome autosomal recessive (disorder)	Is a	Alport syndrome (disorder)	true	Inferred relationship	Some
Alport syndrome autosomal recessive (disorder)	Interprets	Hearing	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set