Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3481747017 | Growth delay due to insulin-like growth factor type 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3481748010 | Growth delay, deafness, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3481749019 | IGF-1 (insulin-like growth factor 1) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3481750019 | Primary insulin-like growth factor deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6458421000146117 | groeiachterstand door insulineachtige groeifactor type 1-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6740291000146114 | groeiachterstand door somatomedine C-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6740301000146113 | syndroom van groeiachterstand, doofheid en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7726351000146111 | groeiachterstand door insulineachtige groeifactor type 1-deficiëntie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7726731000146116 | IGF-1-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | false | Inferred relationship | Some | ||
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Is a | Growth hormone deficiency (disorder) | false | Inferred relationship | Some | ||
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Finding site | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 1 | |
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Is a | Hereditary growth hormone deficiency (disorder) | true | Inferred relationship | Some | ||
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR