717940006: Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Nose finding\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Lesion of face\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Bifid nose\BNAR syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Bifid nose\BNAR syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\BNAR syndrome
\Disease\Ear, nose and throat disorder\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Ear, nose and throat disorder\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Disorder of nose and nasopharynx\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Disorder of nose and nasopharynx\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Disease\Disorder of head\Disorder of face\Disorder of the nose\Lesion of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Disorder of face\Disorder of the nose\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Bifid nose\BNAR syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Bifid nose\BNAR syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Bifid nose\BNAR syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\BNAR syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose\BNAR syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324401015 Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3324402010 Bifid nose, anorectal anomaly, renal anomaly syndrome en Synonym Active Case insensitive SNOMED CT core

3324403017 BNAR syndrome en Synonym Active Case sensitive SNOMED CT core

3324404011 BNAR (bifid nose, anorectal anomaly, renal anomaly) syndrome en Synonym Active Case sensitive SNOMED CT core

3324405012 A very rare multiple congenital anomaly syndrome. The syndrome has characteristics of bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
BNAR syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
BNAR syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
BNAR syndrome	Is a	Bifid nose	true	Inferred relationship	Some
BNAR syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
BNAR syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
BNAR syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
BNAR syndrome	Is a	Congenital anomaly of nose	false	Inferred relationship	Some
BNAR syndrome	Associated morphology	Bilobed structure	false	Inferred relationship	Some	1
BNAR syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
BNAR syndrome	Finding site	Nasal structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324401015	Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324402010	Bifid nose, anorectal anomaly, renal anomaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324403017	BNAR syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324404011	BNAR (bifid nose, anorectal anomaly, renal anomaly) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3324405012	A very rare multiple congenital anomaly syndrome. The syndrome has characteristics of bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.	en	Definition	Active	Case sensitive	SNOMED CT core