Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3323325019 | This syndrome has characteristics of bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402573014 | A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402574015 | A rare genetic disease characterised by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323320012 | Short fifth metacarpal insulin resistance syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3323322016 | Short fifth metacarpal insulin resistance syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Is a | Longitudinal deficiency of metacarpal bone | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 1 | |
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Finding site | 5. metakarpalknogle som helhed | false | Inferred relationship | Some | 1 | |
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. | Finding site | Entire fifth metacarpal bone (body structure) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)