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 |
| 6737231000146110 | syndroom van Cooper-Jabs | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14198351000146117 | syndroom van gehoorgangatresie, congenitale misvormingen en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14198361000146119 | syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14198371000146113 | syndroom van gehoorgangatresie, aangeboren afwijkingen en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14198381000146110 | syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Ventricular septal defect | false | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | Congenital atresia of external auditory canal | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Finding site | Interventricular septum structure | true | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Associated morphology | atresie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Finding site | External auditory canal structure | false | Inferred relationship | Some | 3 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Finding site | Interventricular septum structure | false | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | Congenital ventricular septal defect | true | Inferred relationship | Some | ||
| 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) | Associated morphology | atresie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Finding site | External auditory canal structure | true | Inferred relationship | Some | 1 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Associated morphology | Abnormal communication | true | Inferred relationship | Some | 2 | |
| Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR