Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3481746014 | Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3481747017 | Growth delay due to insulin-like growth factor type 1 deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
3481748010 | Growth delay, deafness, intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3481749019 | IGF-1 (insulin-like growth factor 1) deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
3481750019 | Primary insulin-like growth factor deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
3481751015 | Syndrome with the association of intrauterine and postnatal growth retardation, sensorineural deafness and intellectual deficit. The syndrome is extremely rare and only four cases have been reported in the literature so far. Additional clinical features include microcephaly, adiposity, and insulin resistance. Partial gonadal dysfunction and osteoporosis may also be present. Caused by homozygous mutations in the insulin-like growth factor 1 gene (12q22-q24.1). Transmitted as an autosomal recessive trait. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Growth delay due to insulin-like growth factor type 1 deficiency | Is a | Congenital disease | true | Inferred relationship | Some | ||
Growth delay due to insulin-like growth factor type 1 deficiency | Is a | Hereditary growth hormone deficiency | true | Inferred relationship | Some | ||
Growth delay due to insulin-like growth factor type 1 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Growth delay due to insulin-like growth factor type 1 deficiency | Is a | Hereditary disorder of endocrine system | false | Inferred relationship | Some | ||
Growth delay due to insulin-like growth factor type 1 deficiency | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Growth delay due to insulin-like growth factor type 1 deficiency | Is a | Growth hormone deficiency | false | Inferred relationship | Some | ||
Growth delay due to insulin-like growth factor type 1 deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Growth delay due to insulin-like growth factor type 1 deficiency | Finding site | Structure of distal part of pituitary | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set