Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3723037015 | Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723038013 | Whyte syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3723039017 | Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3722997010 | A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3723037015 | Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723038013 | Whyte syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3723039017 | Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3722997010 | A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3433291001000110 | Spondyloepimetaphysäre Dysplasie-Hypotrichose-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
973951000172116 | syndrome de dysplasie spondylo-métaphysaire-hypotrichose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
973951000172116 | syndrome de dysplasie spondylo-métaphysaire-hypotrichose | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3433291001000110 | Spondyloepimetaphysäre Dysplasie-Hypotrichose-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets