Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3659614016 | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3659615015 | Brachydactyly, mesomelia, intellectual disability, heart defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3659616019 | Stratton Garcia Young syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3659618018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
1013181000241117 | syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Congenital anomaly of cardiovascular system | true | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Finding site | Structure of cardiovascular system (body structure) | true | Inferred relationship | Some | 1 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 2 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Mesomelic dysplasia | false | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Brachydactyly | true | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 1 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 3 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 3 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 4 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Chronic disease of cardiovascular system | false | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Clinical course | Progressive (qualifier value) | false | Inferred relationship | Some | 5 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 6 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 7 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Mesomelic dysplasia of upper limb (disorder) | true | Inferred relationship | Some | ||
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Interprets | Length of radius | true | Inferred relationship | Some | 6 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 6 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Interprets | Length of ulna (observable entity) | true | Inferred relationship | Some | 9 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 9 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Finding site | Bone structure of radius (body structure) | true | Inferred relationship | Some | 4 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 5 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 5 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets