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 |
| 3320443015 | Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320444014 | Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320651011 | Burn McKeown syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402451016 | A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402452011 | A rare multiple congenital anomaly syndrome characterised by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Congenital anomaly of skull | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Choanal atresia | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Hearing loss associated with syndrome | false | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Finding site | Bone structure of cranium | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 4 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Finding site | Structure of choana (body structure) | false | Inferred relationship | Some | 4 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 2 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 1 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Finding site | Structure of choana (body structure) | true | Inferred relationship | Some | 1 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Finding site | Structure of auditory system (body structure) | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Interprets | Hearing | false | Inferred relationship | Some | 4 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | Associated morphology | Atresia (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