770414008: Alport syndrome (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)

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary nephritis\Alport syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Alport syndrome (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of genitourinary system\Nephritis (disorder)\Glomerulonephritis\Hereditary nephritis\Alport syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hereditary nephritis\Alport syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Alport syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Alport syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Alport syndrome (disorder)
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Inflammatory disorder of genitourinary system\Nephritis (disorder)\Glomerulonephritis\Hereditary nephritis\Alport syndrome (disorder)
\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)
\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)
\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)
\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)
\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)
\Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Nephritis (disorder)\Glomerulonephritis\Hereditary nephritis\Alport syndrome (disorder)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3700751016 Alport syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3700752011 Alport syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404782017 A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404783010 A rare renal disease characterised by glomerular nephropathy with haematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3700751016 Alport syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3700752011 Alport syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3700753018 An inherited disease characterized by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localized on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3700754012 An inherited disease characterised by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localised on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404782017 A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404783010 A rare renal disease characterised by glomerular nephropathy with haematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3385101001000112 Alport-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

988891000172119 syndrome de surdité-néphropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1005711000172119 syndrome d'Alport fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

988891000172119 syndrome de surdité-néphropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1005711000172119 syndrome d'Alport fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3385101001000112 Alport-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alport syndrome (disorder)	Associated morphology	inflammation chronique	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Alport syndrome (disorder)	Is a	Hereditary nephritis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alport syndrome (disorder)	Finding site	Glomerulus structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alport syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome (disorder)	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
Alport syndrome autosomal recessive	Is a	True	Alport syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome X-linked (disorder)	Is a	True	Alport syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome autosomal dominant	Is a	True	Alport syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	Is a	False	Alport syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Glomerular disease due to Alport syndrome	Due to	True	Alport syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3700751016	Alport syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3700752011	Alport syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404782017	A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404783010	A rare renal disease characterised by glomerular nephropathy with haematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3700751016	Alport syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3700752011	Alport syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3700753018	An inherited disease characterized by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localized on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3700754012	An inherited disease characterised by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localised on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404782017	A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404783010	A rare renal disease characterised by glomerular nephropathy with haematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3385101001000112	Alport-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
988891000172119	syndrome de surdité-néphropathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1005711000172119	syndrome d'Alport	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
988891000172119	syndrome de surdité-néphropathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1005711000172119	syndrome d'Alport	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385101001000112	Alport-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module