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 |
3316209019 | A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402085012 | Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402086013 | Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterised by symmetric shortening of the middle segments of limbs and short stature. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3314812011 | Mesomelic dysplasia Kantaputra type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3314813018 | Mesomelic dysplasia Kantaputra type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3314814012 | Kantaputra mesomelic dysplasia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3316210012 | Mesomelic dysplasia Thai type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Mesomelic dysplasia (disorder) | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Finding site | Bone structure | false | Inferred relationship | Some | 1 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Clinical course | Progressive | false | Inferred relationship | Some | 2 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Interprets | Height / growth measure | false | Inferred relationship | Some | 3 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Interprets | Limb length | true | Inferred relationship | Some | 2 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 1 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Congenital deformity of bone of forearm (disorder) | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Congenital anomalies of elbow and upper arm | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Deformity of radius | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Bowing of upper limb (finding) | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Congenital abnormal shape of humerus | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Congenital abnormal shape of radius | true | Inferred relationship | Some | ||
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Interprets | Body height measure | true | Inferred relationship | Some | 5 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Finding site | Bone structure of distal humerus | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Associated morphology | Abnormal shape (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Finding site | Bone structure of radius | true | Inferred relationship | Some | 4 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Associated morphology | Bowing deformity | true | Inferred relationship | Some | 4 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. | Is a | Congenital bowing of long bone (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)