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 |
3323449017 | Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323450017 | Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
756931000241118 | syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
917921000172111 | syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3323451018 | Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. 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 |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | false | Inferred relationship | Some | 1 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 4 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 3 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | false | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 5 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Dentin structure | true | Inferred relationship | Some | 1 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Dentinogenesis imperfecta | true | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 3 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 2 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | false | Inferred relationship | Some | 4 | |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets