Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
124444012 | Camptomelic dysplasia | en | Synonym | Active | Case insensitive | SNOMED CT core |
4551747012 | Campomelic dysplasia | en | Synonym | Active | Case insensitive | SNOMED CT core |
4551748019 | Campomelic dysplasia with autosomal sex reversal | en | Synonym | Active | Case insensitive | SNOMED CT core |
815481011 | Camptomelic dysplasia (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4551749010 | A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. | en | Definition | Active | Case sensitive | SNOMED CT core |
4551750010 | A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set