| proteussyndroom (aandoening) | | proteussyndroom | | proteussyndroom | | Zeer zeldzame erfelijke aandoening met als kenmerken overmatige groei of misvormingen van verschillende typen weefsels, zoals huid, onderhuids weefsel, botten en organen. | | Proteus syndrome | | A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly. |
| | Id | 23150001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q89.7 | | Term | Multipele congenitale misvormingen, niet elders geclassificeerd |
|
| SNOMED CT to Orphanet simple map | 744 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.3 | | Rule | TRUE | | Advice | ALWAYS Q87.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
