Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3320444014 | Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3320651011 | Burn McKeown syndrome | en | Synonym | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 2 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Associated morphology | Congenital atresia | true | Inferred relationship | Some | 1 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Finding site | Structure of choana | true | Inferred relationship | Some | 1 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Finding site | Structure of auditory system | false | Inferred relationship | Some | 3 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Interprets | Hearing | false | Inferred relationship | Some | 4 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Congenital anomaly of skull | true | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Choanal atresia | true | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Hearing loss associated with syndrome | false | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Inherited disorder of connective tissue | false | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Finding site | Ear structure | false | Inferred relationship | Some | 3 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Finding site | Bone structure of cranium | false | Inferred relationship | Some | 3 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 4 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome | Finding site | Structure of choana | false | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Australian dialect reference set
Respiratory finding reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set