Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3702087010 | Prader-Willi-like syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3702088017 | Prader-Willi-like syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3702089013 | A rare genetic, endocrine disease with manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
6q16 microdeletion syndrome | Is a | True | Prader-Willi-like syndrome | Inferred relationship | Some | |
SIM1-related Prader-Willi-like syndrome | Is a | True | Prader-Willi-like syndrome | Inferred relationship | Some | |
MAGEL2-related Prader-Willi-like syndrome | Is a | True | Prader-Willi-like syndrome | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set