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 |
3498444017 | Brachydactyly and preaxial hallux varus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498445016 | Brachydactyly and preaxial hallux varus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499925014 | The association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. The syndrome has been described in eight affected individuals from four successive generations of one family. Intellectual deficit was observed in all reported individuals. Transmission appears to be autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
978191000172117 | syndrome de brachydactylie préaxiale-hallux varus | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
908591000172116 | brachydactylie, pre-axiale hallux varus | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Brachydactyly and preaxial hallux varus syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Brachydactyly and preaxial hallux varus syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Brachydactyly and preaxial hallux varus syndrome | Is a | Brachydactyly | true | Inferred relationship | Some | ||
Brachydactyly and preaxial hallux varus syndrome | Is a | Congenital hallux varus | true | Inferred relationship | Some | ||
Brachydactyly and preaxial hallux varus syndrome | Is a | retard mental | false | Inferred relationship | Some | ||
Brachydactyly and preaxial hallux varus syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Brachydactyly and preaxial hallux varus syndrome | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 2 | |
Brachydactyly and preaxial hallux varus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Brachydactyly and preaxial hallux varus syndrome | Finding site | Entire digit | true | Inferred relationship | Some | 2 | |
Brachydactyly and preaxial hallux varus syndrome | Associated morphology | Congenital varus deformity | false | Inferred relationship | Some | 3 | |
Brachydactyly and preaxial hallux varus syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Brachydactyly and preaxial hallux varus syndrome | Finding site | Joint of hallux | false | Inferred relationship | Some | 3 | |
Brachydactyly and preaxial hallux varus syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Brachydactyly and preaxial hallux varus syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Brachydactyly and preaxial hallux varus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Brachydactyly and preaxial hallux varus syndrome | Finding site | Joint of hallux | true | Inferred relationship | Some | 1 | |
Brachydactyly and preaxial hallux varus syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Brachydactyly and preaxial hallux varus syndrome | Associated morphology | Varus deformity | true | Inferred relationship | Some | 1 | |
Brachydactyly and preaxial hallux varus syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Brachydactyly and preaxial hallux varus syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
Brachydactyly and preaxial hallux varus syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Brachydactyly and preaxial hallux varus syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
Brachydactyly and preaxial hallux varus syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets