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 |
3322322014 | Ehlers-Danlos syndrome musculocontractural type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322323016 | Ehlers-Danlos syndrome musculocontractural type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322324010 | Ehlers-Danlos syndrome Kosho type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322325011 | Adducted thumbs, arthrogryposis syndrome, Dundar type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3322326012 | Ehlers-Danlos syndrome arthrogryposic type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402512012 | A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402513019 | A rare systemic disease characterised by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Distal arthrogryposis syndrome | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Ehlers-Danlos syndrome (disorder) | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 6 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 6 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 7 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 7 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 5 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Congenital anomaly of bone and joint | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Contracture | false | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Is a | Skeletal dysplasia | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Connective tissue structure | true | Inferred relationship | Some | 6 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 5 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 5 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Finding site | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Some | 7 | |
Ehlers-Danlos syndrome musculocontractural type (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)