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 |
3431473013 | Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431474019 | Mesoaxial synostotic syndactyly with phalangeal reduction syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431475018 | Syndactyly Malik Percin type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3431476017 | Syndactyly type 9 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431477014 | A novel and distinct form of non-syndromic syndactyly including complete syndactyly of the third and fourth fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the second and third toes and fifth finger clinodactyly. It has been described in two families. The locus for this complex limb malformation was mapped to chromosome 17p13.3. The condition is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | Is a | Syndactyly (disorder) | true | Inferred relationship | Some | ||
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 1 | |
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets