Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3728167013 | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3728168015 | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3728169011 | SAMS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3728170012 | SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
772341000241113 | syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
922641000172118 | syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
939441000172111 | syndrome SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3728171011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | localisation d'une constatation (attribut) | os de la mandibule | true | Inferred relationship | Some | 3 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | Congenital micrognathism | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | localisation d'une constatation (attribut) | méat acoustique externe (structure corporelle) | true | Inferred relationship | Some | 2 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | Skeletal dysplasia | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | Congenital atresia of external auditory canal | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | morphologie associée (attribut) | Congenital atresia (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | false | Inferred relationship | Some | 4 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 4 | |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets