290006: branchio-otorenaal syndroom (aandoening)

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

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

\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome

\Congenital nephropathy (disorder)\Congenital anomaly of the kidney\Melnick-Fraser syndrome

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Melnick-Fraser syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Melnick-Fraser syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Melnick-Fraser syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Melnick-Fraser syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Melnick-Fraser syndrome

\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Congenital hearing loss (disorder)\Melnick-Fraser syndrome

\Hearing loss\Congenital hearing loss (disorder)\Melnick-Fraser syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Melnick-Fraser syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Melnick-Fraser syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Melnick-Fraser syndrome
\Disease\Disorder of embryonic structure (disorder)\Developmental malformation of branchial arch (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital nephropathy (disorder)\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Developmental malformation of branchial arch (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser 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\Melnick-Fraser 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\Melnick-Fraser syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser 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\Melnick-Fraser 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\Melnick-Fraser syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Melnick-Fraser 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\Melnick-Fraser 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\Hereditary nephropathy (disorder)\Melnick-Fraser 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 nephropathy (disorder)\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Melnick-Fraser 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\Melnick-Fraser 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\Melnick-Fraser 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\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital nephropathy (disorder)\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Congenital nephropathy (disorder)\Congenital anomaly of the kidney\Melnick-Fraser 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\Melnick-Fraser 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\Melnick-Fraser 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\Hereditary nephropathy (disorder)\Melnick-Fraser 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 nephropathy (disorder)\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Melnick-Fraser 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\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Melnick-Fraser 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\Melnick-Fraser syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Melnick-Fraser syndrome
\Disease\Developmental disorder\Congenital malformation\Developmental malformation of branchial arch (disorder)\Melnick-Fraser syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser 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\Melnick-Fraser 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\Melnick-Fraser syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Melnick-Fraser 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\Melnick-Fraser syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Melnick-Fraser syndrome	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	aandoening van nier bij hereditaire ziekte (aandoening)	false	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	Multisystem disorder A-B	false	Inferred relationship	Some
Melnick-Fraser syndrome	Finding site	Urinary system structure (body structure)	false	Inferred relationship	Some	9
Melnick-Fraser syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Melnick-Fraser syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	1
Melnick-Fraser syndrome	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Some
Melnick-Fraser syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Melnick-Fraser syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Melnick-Fraser syndrome	Is a	Congenital malformation of the urinary system	false	Inferred relationship	Some
Melnick-Fraser syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Melnick-Fraser syndrome	Finding site	Kidney structure	false	Inferred relationship	Some	1
Melnick-Fraser syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Melnick-Fraser syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Melnick-Fraser syndrome	Finding site	Kidney structure	false	Inferred relationship	Some	2
Melnick-Fraser syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Melnick-Fraser syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Melnick-Fraser syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Melnick-Fraser syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Melnick-Fraser syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Melnick-Fraser syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Melnick-Fraser syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Melnick-Fraser syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Melnick-Fraser syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Melnick-Fraser syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Melnick-Fraser syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	Developmental malformation of branchial arch (disorder)	true	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	Hearing loss	false	Inferred relationship	Some
Melnick-Fraser syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Melnick-Fraser syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Melnick-Fraser syndrome	Finding site	Branchial arch structure	true	Inferred relationship	Some	5
Melnick-Fraser syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Melnick-Fraser syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Melnick-Fraser syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Melnick-Fraser syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Melnick-Fraser syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Melnick-Fraser syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	Congenital hearing loss (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1568018	Melnick-Fraser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1569014	Branchio-oto-renal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1570010	BOR syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
759766013	Melnick-Fraser syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98441000146112	syndroom van Melnick-Fraser	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2063181000146118	branchio-otorenaal syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2063191000146116	branchio-otorenaal syndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2063201000146119	Melnick-Fraser-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9225331000146113	BOR syndroom; erfelijke aandoening van de nek (branchio), de oren (oto) en de nieren (renaal), waarbij milde tot ernstige afwijkingen aan de nieren zijn en de nek en oren niet goed zijn ontwikkeld.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)