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 |
| 3315922014 | Spondylometaphyseal dysplasia Schmidt type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315923016 | Spondylometaphyseal dysplasia Schmidt type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3315924010 | Spondylometaphyseal dysplasia with severe genu valgum | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3315925011 | Spondylometaphyseal dysplasia Algerian type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 7084711000146110 | SEMD met ernstige genu valgum | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12689561000146112 | spondylometafysaire dysplasie Schmidt-type (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12744481000146118 | spondylometafysaire dysplasie Schmidt-type | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12744491000146116 | spondylometafysaire dysplasie Algerijns type | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3315926012 | Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Is a | Metaphyseal chondrodysplasia | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Is a | Short stature disorder | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Is a | Spondylometaphyseal dysplasia | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Schmidt type (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR