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 |
| 3321979011 | Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321980014 | Aural atresia with multiple congenital anomalies and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321981013 | Cooper Jabs syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321982018 | A multiple malformation syndrome with characteristics of atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot and intellectual deficit. It has been described only once, in two sisters. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | méat acoustique externe (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | défaut du septum ventriculaire (trouble) | false | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital atresia of external auditory canal | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | septum interventriculaire (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | méat acoustique externe (structure corporelle) | false | Inferred relationship | Some | 3 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | septum interventriculaire (structure corporelle) | false | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital ventricular septal defect | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR