766249007: Deafness, nephritis, anorectal malformation syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Disorder of renal parenchyma (disorder)\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome

\anomalie congénitale des reins\Lowe Kohn Cohen syndrome

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Lowe Kohn Cohen syndrome
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Lowe Kohn Cohen syndrome
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Lowe Kohn Cohen syndrome
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Lowe Kohn Cohen syndrome

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Lowe Kohn Cohen syndrome
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Lowe Kohn Cohen syndrome
\constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Lowe Kohn Cohen syndrome
\constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Lowe Kohn Cohen syndrome
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Lowe Kohn Cohen syndrome
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Lowe Kohn Cohen syndrome

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...

\Congenital hearing disorder\Lowe Kohn Cohen syndrome

\perte auditive (trouble)\Hearing loss associated with syndrome\Lowe Kohn Cohen syndrome

\Disease\affection d'un système corporel\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\Ear, nose and throat disorder\affection de l'oreille\Lowe Kohn Cohen syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\inflammation d'un organe corporel spécifique\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of perineum (disorder)\Disorder of anal region (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of perineum (disorder)\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Anorectal disorder (disorder)\Disorder of anus (disorder)\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Inflammatory disorder of genitourinary system (disorder)\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\néphrite\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\affection de la tête\affection de l'oreille\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Congenital disease\Congenital hearing disorder\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of the urinary system\anomalie congénitale des reins\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\anomalie congénitale du tractus gastro-intestinal\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3661244010 Lowe Kohn Cohen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3661245011 Deafness, nephritis, anorectal malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3661246012 Deafness, nephritis, anorectal malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3661247015 An extremely rare anorectal malformation syndrome with characteristics of imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. 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
Lowe Kohn Cohen syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lowe Kohn Cohen syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Lowe Kohn Cohen syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	est un(e) (attribut)	anomalie congénitale des reins	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	est un(e) (attribut)	affection de l'oreille	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	morphologie associée (attribut)	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	est un(e) (attribut)	Congenital hearing disorder	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	4
Lowe Kohn Cohen syndrome	est un(e) (attribut)	Anal atresia	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	localisation d'une constatation (attribut)	Structure of parenchyma of kidney	true	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Lowe Kohn Cohen syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Lowe Kohn Cohen syndrome	localisation d'une constatation (attribut)	structure anale	true	Inferred relationship	Some	1
Lowe Kohn Cohen syndrome	localisation d'une constatation (attribut)	oreille	true	Inferred relationship	Some	3
Lowe Kohn Cohen syndrome	est un(e) (attribut)	Hearing loss associated with syndrome	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	est un(e) (attribut)	Congenital nephritis	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	morphologie associée (attribut)	inflammation	false	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	morphologie associée (attribut)	Congenital atresia (morphologic abnormality)	true	Inferred relationship	Some	1
Lowe Kohn Cohen syndrome	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3661244010	Lowe Kohn Cohen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3661245011	Deafness, nephritis, anorectal malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3661246012	Deafness, nephritis, anorectal malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3661247015	An extremely rare anorectal malformation syndrome with characteristics of imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core