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 |
| 755831000241116 | syndrome d'atrésie des choanes-surdité-cardiopathie-dysmorphie craniofaciale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 926871000172111 | syndrome de Burn-McKeown | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 939941000172119 | syndrome d'atrésie des choanes-surdité-cardiopathie-dysmorphie craniofaciale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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) | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | Structure of choana (body structure) | true | Inferred relationship | Some | 1 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | false | Inferred relationship | Some | 4 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du crâne (trouble) | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | atrésie choanale (trouble) | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | false | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | false | Inferred relationship | Some | 3 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | Structure of choana (body structure) | false | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR