| syndroom van intra-uteriene groeivertraging, kleine gestalte en diabetes beginnend op vroege volwassen leeftijd (aandoening) | | syndroom van intra-uteriene groeivertraging, kleine gestalte en diabetes beginnend op vroege volwassen leeftijd | | syndroom van intra-uteriene groeivertraging, dwerggroei en diabetes beginnend op vroege volwassen leeftijd
| | Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | | A rare genetic endocrine disease with characteristics of intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency. |
| | Id | 1197592001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 436144 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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