290006: Melnick-Fraser syndrome (disorder)

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

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

\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome

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

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

\Congenital hearing disorder\Melnick-Fraser syndrome

\Hearing loss\Melnick-Fraser syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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\Congenital malformation\Developmental malformation of branchial arch (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\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\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\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\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\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\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\Congenital hearing disorder\Melnick-Fraser syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\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 (disorder)\Congenital hearing disorder\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disease 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\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of 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\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\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)\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease 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\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)\Melnick-Fraser syndrome
\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\Congenital anomaly of the kidney\Melnick-Fraser syndrome
\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)\Melnick-Fraser syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of 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 (disorder)\Developmental hereditary disorder\Melnick-Fraser syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Developmental malformation of branchial arch (disorder)\Melnick-Fraser syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Melnick-Fraser syndrome
\Disease\Developmental disorder (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 (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 (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 (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 (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	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	Renal disorders in inherited disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	Multisystem disorder A-B	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Finding site	Urinary system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Melnick-Fraser syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Finding site	Kidney structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Is a	Congenital malformation of the urinary system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melnick-Fraser syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melnick-Fraser syndrome	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melnick-Fraser syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Melnick-Fraser syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Melnick-Fraser syndrome	Finding site	Face structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Melnick-Fraser syndrome	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melnick-Fraser syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melnick-Fraser syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melnick-Fraser syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Melnick-Fraser syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	Developmental malformation of branchial arch (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Is a	Hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Melnick-Fraser syndrome	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Melnick-Fraser syndrome	Finding site	Branchial arch structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Melnick-Fraser syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Melnick-Fraser syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Melnick-Fraser syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Melnick-Fraser syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Melnick-Fraser syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Melnick-Fraser syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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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
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 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	Only initial character case insensitive (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
3395231001000111	BOR-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4383041000241115	syndrome branchio-otorénal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4383041000241115	syndrome branchio-otorénal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395231001000111	BOR-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module