Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2995093014 | Congenital deafness with inner ear agenesis, microtia, and microdontia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2995100017 | LAMM syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2995419019 | Congenital deafness with labyrinthine aplasia, microtia and microdontia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2995862014 | Congenital deafness with labyrinthine aplasia, microtia and microdontia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3700314013 | A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Microdontia | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Microtia | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Congenital deafness | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Finding site | Tooth structure | true | Inferred relationship | Some | 3 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Finding site | Inner ear structure (body structure) | true | Inferred relationship | Some | 1 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Finding site | External ear structure | true | Inferred relationship | Some | 2 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 2 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Congenital anomaly of ear with impairment of hearing | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Congenital anomaly of inner ear | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Congenital anomaly of tooth (disorder) | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Associated morphology | Growth alteration | true | Inferred relationship | Some | 5 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Finding site | Tooth structure | true | Inferred relationship | Some | 5 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 6 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Finding site | Tooth structure | false | Inferred relationship | Some | 6 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 6 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR