Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756031012 | Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3756032017 | Spondylometaphyseal dysplasia Czarny Ratajczak type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3756026010 | A rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756028011 | A rare primary bone dysplasia disorder characterised by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalised metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4343851000052119 | spondylometafyseal dysplasi, Czarny Ratajczak-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 |
| Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) | Is a | Spondylometaphyseal dysplasia | true | Inferred relationship | Some | ||
| Spondylometaphyseal dysplasia Czarny Ratajczak 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