Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3446301011 | Intellectual disability Buenos Aires type (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3446302016 | Intellectual disability Buenos Aires type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3446303014 | Mutchinick syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3446304015 | A rare intellectual disability syndrome with characteristics of growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. | 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