Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3440760015 | 5-amino-4-imidazole carboxamide ribosiduria (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3440761016 | 5-amino-4-imidazole carboxamide ribosiduria | en | Synonym | Active | Case insensitive | SNOMED CT core |
3440763018 | ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
3780959012 | AICA (5-amino-4-imidazole carboxamide) ribosiduria | en | Synonym | Active | Case sensitive | SNOMED CT core |
3440764012 | An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous mutation in the ATIC gene on chromosome 2q35. | 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