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 |
| 3324380017 | Bilateral microtia with deafness and cleft palate syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324381018 | Bilateral microtia with deafness and cleft palate syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6835001000146118 | syndroom van bilaterale microtie, doofheid en gespleten gehemelte (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6835011000146116 | syndroom van bilaterale microtie, doofheid en gespleten gehemelte | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3324379015 | Syndrome with the association of bilateral microtia, severe to profound hearing impairment and cleft palate. It has been described in four individuals from a consanguineous Iranian family. The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Microtia | true | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Cleft palate | true | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Congenital anomaly of ear with impairment of hearing | true | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Congenital anomaly of right ear (disorder) | false | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 7 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Finding site | Right external ear structure | false | Inferred relationship | Some | 7 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 6 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 5 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 5 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Finding site | Left external ear structure (body structure) | false | Inferred relationship | Some | 6 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 1 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Congenital anomaly of left ear (disorder) | false | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 3 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 1 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Finding site | Right external ear structure | true | Inferred relationship | Some | 3 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 2 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Finding site | Left external ear structure (body structure) | true | Inferred relationship | Some | 1 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Congenital malformation of bilateral external ears (disorder) | true | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Finding site | Bone structure of head | false | Inferred relationship | Some | 5 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR