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 |
3321970010 | An extremely rare multiple congenital anomaly syndrome with characteristics of bilateral choanal atresia associated with cranio-facial dysmorphism, that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlap considerably with those of the CHARGE syndrome. | 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 | true | 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 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets