Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3431106011 | Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431107019 | Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431108012 | Syndrome with characteristics of metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. There is evidence this syndrome is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Is a | Congenital maxillary hypoplasia | true | Inferred relationship | Some | ||
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Is a | Craniofacial microsomia | false | Inferred relationship | Some | ||
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Finding site | Structure of metaphysis | true | Inferred relationship | Some | 2 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 3 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Finding site | Bone structure of maxilla | false | Inferred relationship | Some | 3 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Finding site | Bone structure of maxilla | true | Inferred relationship | Some | 1 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets