| 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 with characteristics 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 |
| 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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