| syndroom van myelodysplasie, infectie, groeirestrictie, bijnierhypoplasie, genitale afwijkingen en enteropathie (aandoening) | | syndroom van myelodysplasie, infectie, groeirestrictie, bijnierhypoplasie, genitale afwijkingen en enteropathie | | MIRAGE-syndroom
| | MIRAGE syndrome | | Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome
MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy) syndrome
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome
| | A rare genetic disease with characteristics of pre and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly and arachnodactyly among others) may also be observed. |
| | Id | 1234831009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 494433 |
| SNOMED CT to ICD-10 extended map | | Target | E25.8 | | Rule | TRUE | | Advice | ALWAYS E25.8 | 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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