770414008: syndrome d'Alport (trouble)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Hereditary nephritis (disorder)\syndrome d'Alport

\Disorder of renal parenchyma (disorder)\Glomerular disease\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport
\Disorder of renal parenchyma (disorder)\néphrite\glomérulonéphrite\Hereditary nephritis (disorder)\syndrome d'Alport

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\syndrome d'Alport
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\syndrome d'Alport
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\syndrome d'Alport

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\syndrome d'Alport

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

1005711000172119 syndrome d'Alport fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

769291000241114 syndrome d'Alport (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

988891000172119 syndrome de surdité-néphropathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome d'Alport	morphologie associée (attribut)	Chronic inflammation	true	Inferred relationship	Some	1
syndrome d'Alport	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	3
syndrome d'Alport	est un(e) (attribut)	Hereditary nephritis (disorder)	true	Inferred relationship	Some
syndrome d'Alport	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	2
syndrome d'Alport	localisation d'une constatation (attribut)	Glomerulus structure	true	Inferred relationship	Some	1
syndrome d'Alport	est un(e) (attribut)	Sensorineural hearing loss	true	Inferred relationship	Some
syndrome d'Alport	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glomerular disease due to Alport syndrome	Due to	True	syndrome d'Alport	Inferred relationship	Some	2
Alport syndrome autosomal recessive (disorder)	est un(e) (attribut)	True	syndrome d'Alport	Inferred relationship	Some
Alport syndrome X-linked (disorder)	est un(e) (attribut)	True	syndrome d'Alport	Inferred relationship	Some
Alport syndrome autosomal dominant (disorder)	est un(e) (attribut)	True	syndrome d'Alport	Inferred relationship	Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder)	est un(e) (attribut)	False	syndrome d'Alport	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1005711000172119	syndrome d'Alport	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
769291000241114	syndrome d'Alport (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
988891000172119	syndrome de surdité-néphropathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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