Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3649937015 | Anauxetic dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649939017 | Spondyloepimetaphyseal dysplasia anauxetic type (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649940015 | Spondyloepimetaphyseal dysplasia Menger type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3654095015 | Spondyloepimetaphyseal dysplasia anauxetic type | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3649941016 | Syndrome with characteristics of extremely short stature and other skeletal abnormalities including kyphoscoliosis, hyperlordosis, hip dislocation, hypermobility, dental problems and distinctive facial features. Mild intellectual disability may also be present. The disorder can be caused by mutations in the RMRP gene. This condition is inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR