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

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

\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\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\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of the nose (disorder)\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose (disorder)\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Nose finding\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of nose AND/OR nasopharynx (disorder)\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of nose AND/OR nasopharynx (disorder)\Disorder of the nose (disorder)\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of nose AND/OR nasopharynx (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of nose AND/OR nasopharynx (disorder)\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of nose AND/OR nasopharynx (disorder)\Disorder of the nose (disorder)\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of nose AND/OR nasopharynx (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\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\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose (disorder)\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\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\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of nose and nasopharynx\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose (disorder)\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose (disorder)\Lesion of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Nose finding\Disorder of the nose (disorder)\Congenital anomaly of nose\Congenital cleft nose\Bifid nose (disorder)\Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3324402010 Bifid nose, anorectal anomaly, renal anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3324403017 BNAR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324404011 BNAR (bifid nose, anorectal anomaly, renal anomaly) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

9995821000172118 syndrome de nez bifide, anomalie anorectale et anomalie rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

9995831000172115 syndrome BNAR (bifid nose, anorectal anomaly, renal anomaly) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5144331000172114 syndroom van gespleten neus met of zonder anorectale en renale anomalieën nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5144341000172119 BNAR-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets