Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321300016 | Brain calcification Rajab type (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3321301017 | Brain calcification Rajab type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3321302012 | Rajab syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3321303019 | An inherited disorder with characteristics of widespread calcifications of the basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. The syndrome has been described in eight children from two interrelated families. The disorder is associated with a genetic locus on chromosome 2 and transmission is autosomal recessive. | 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
Problem/Diagnosis reference set