| syndroom van hydrops, lactaatacidose, sideroblastische anemie en multisysteemfalen (aandoening) | | syndroom van hydrops, lactaatacidose, sideroblastische anemie en multisysteemfalen | | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome | | A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia. This is followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients that survive the neonatal period have been reported to have sensorineural hearing loss and developmental delay. |
| | Id | 1237349008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 528091 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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