| 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, 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 surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported. |
| | 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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