| mozaïekvorm van Legius-syndroom (aandoening) | | mozaïekvorm van Legius-syndroom | | mozaïekvorm van NF1-achtig syndroom
mozaïekvorm van 'neurofibromatosis-1-like'-syndroom
mozaïekvorm van syndroom van Legius
mozaïekvorm van neurofibromatose 1-achtig syndroom
| | Mosaic Legius syndrome | | Mosaic neurofibromatosis 1-like syndrome
Mosaic NF1 (neurofibromatosis 1) like syndrome
| | A rare mosaic form of Legius syndrome with findings typical of Legius syndrome, namely multiple cafe-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicism and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome. |
| | Id | 1300197001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| SNOMED CT to ICD-10 extended map | | Target | Q85.0 | | Rule | TRUE | | Advice | ALWAYS Q85.0 | 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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