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 |
| 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 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Finding site | Bone structure of mandible | true | Inferred relationship | Some | 3 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Is a | Congenital micrognathism | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Finding site | External auditory canal structure | 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 | Associated morphology | 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 | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Is a | Congenital atresia of external auditory canal | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 2 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Occurrence | Congenital | 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 | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR