717766000: Alport syndrome autosomal dominant (disorder)

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

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

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

\Disorder of renal parenchyma (disorder)\Glomerular disease\Glomerulonephritis\Hereditary nephritis\Alport syndrome (disorder)\Alport syndrome autosomal dominant
\Disorder of renal parenchyma (disorder)\Nephritis (disorder)\Glomerulonephritis\Hereditary nephritis\Alport syndrome (disorder)\Alport syndrome autosomal dominant

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alport syndrome autosomal dominant	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome autosomal dominant	Is a	Hereditary nephritis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome autosomal dominant	Associated morphology	inflammation chronique	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome autosomal dominant	Finding site	Glomerulus structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome autosomal dominant	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alport syndrome autosomal dominant	Is a	Alport syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome autosomal dominant	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Alport syndrome autosomal dominant	Associated morphology	Chronic inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3306956019	Alport syndrome autosomal dominant (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310200014	Alport syndrome autosomal dominant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3306956019	Alport syndrome autosomal dominant (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3310200014	Alport syndrome autosomal dominant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3392241001000111	Alport-Syndrom, autosomal-dominantes	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5945991000241117	syndrome d'Alport autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5946001000241118	syndrome autosomique dominant de surdité et néphropathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5945991000241117	syndrome d'Alport autosomique dominant	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5946001000241118	syndrome autosomique dominant de surdité et néphropathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392241001000111	Alport-Syndrom, autosomal-dominantes	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module