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 | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | Congenital anomaly of ear with impairment of hearing | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | Congenital anomaly of inner ear | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | Congenital anomaly of tooth (disorder) | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | morphologie associée (attribut) | modification de la croissance | true | Inferred relationship | Some | 5 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | localisation d'une constatation (attribut) | dent (structure corporelle) | true | Inferred relationship | Some | 5 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | interprète (attribut) | Hearing, function (observable entity) | 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 | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | localisation d'une constatation (attribut) | dent (structure corporelle) | 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 | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | 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 | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | microtie (trouble) | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | survenue (attribut) | congénital | 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 | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | 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 | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | Congenital deafness | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | localisation d'une constatation (attribut) | dent (structure corporelle) | true | Inferred relationship | Some | 3 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | localisation d'une constatation (attribut) | structure de l'oreille interne (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | localisation d'une constatation (attribut) | oreille externe (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR