| syndroom van intra-uteriene groeivertraging, meerdere congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling (aandoening) | | syndroom van intra-uteriene groeivertraging, meerdere congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling | | syndroom van intra-uteriene groeirestrictie, multipele congenitale café-au-laitvlekken en verhoogde zusterchromatide-uitwisseling
| | Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome | | A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent. |
| | Id | 1177178005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.1 | | Term | Congenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte |
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| SNOMED CT to Orphanet simple map | 508512 |
| 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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