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 |
| 5401640013 | BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a 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 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 |
| 5401641012 | BNAR syndrome is a very rare multiple congenital anomaly syndrome characterised by a 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 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 |
| 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR