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 |
| 3315408015 | Spondyloepiphyseal dysplasia Maroteaux type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315409011 | Spondyloepiphyseal dysplasia Maroteaux type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315411019 | Pseudo-Morquio syndrome type 2 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315410018 | A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3887291000052113 | spondyloepifysdysplasi, Maroteaux-typ | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Is a | Spondyloepiphyseal dysplasia congenita group (disorder) | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondyloepiphyseal dysplasia Maroteaux type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR