| syndroom van myelodysplasie, infectie, groeirestrictie, bijnierhypoplasie, genitale afwijkingen en enteropathie (aandoening) | | syndroom van myelodysplasie, infectie, groeirestrictie, bijnierhypoplasie, genitale afwijkingen en enteropathie | | MIRAGE-syndroom
|  | Dit betekent dat je bloedcellen zich niet normaal ontwikkelen. Hierdoor kan je bloed minder goed zijn werk doen. Ook groei je niet goed en heb je problemen met je geslachtsdelen, darmen en bijnieren. Je bijnieren liggen boven op je nieren en maken hormonen. | | 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 characterized by 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 |
| SNOMED CT to ICD-10 extended map | | Target | D46.7 | | Rule | TRUE | | Advice | ALWAYS D46.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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