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

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

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

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

\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Anal finding\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)\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)\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\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)\Disorder of digestive system (disorder)\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)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome

\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Lowe Kohn Cohen syndrome
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Lowe Kohn Cohen syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Lowe Kohn Cohen syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Lowe Kohn Cohen syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Lowe Kohn Cohen syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lowe Kohn Cohen syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Lowe Kohn Cohen syndrome
\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Lowe Kohn Cohen syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Lowe Kohn Cohen syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lowe Kohn Cohen syndrome

\Functional finding\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Lowe Kohn Cohen syndrome

\Hearing loss\Hearing loss associated with syndrome\Lowe Kohn Cohen syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Lowe Kohn Cohen syndrome
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\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\Disorder of body system\Disorder of digestive system (disorder)\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\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\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\Congenital nephritis\Lowe Kohn Cohen syndrome
\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\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\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)\Nephritis\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Nephritis\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\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\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\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\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Inflammatory disorder of genitourinary system (disorder)\Nephritis\Congenital nephritis\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\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\Congenital nephritis\Lowe Kohn Cohen syndrome
\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\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Disorder of head (disorder)\Disorder of ear\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\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\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Lowe Kohn Cohen syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\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	Is a	Anal atresia	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	Finding site	Structure of parenchyma of kidney	true	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Lowe Kohn Cohen syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lowe Kohn Cohen syndrome	Finding site	Anal structure	true	Inferred relationship	Some	1
Lowe Kohn Cohen syndrome	Finding site	Ear structure	true	Inferred relationship	Some	3
Lowe Kohn Cohen syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	Is a	Congenital nephritis	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	Associated morphology	Inflammation	false	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	Associated morphology	Congenital atresia	true	Inferred relationship	Some	1
Lowe Kohn Cohen syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
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	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Lowe Kohn Cohen syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Lowe Kohn Cohen syndrome	Interprets	Hearing	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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