| syndroom van multinucleaire neuronen, anhydramnion, dysplasie van nier, hypoplasie van cerebellum en hydranencefalie (aandoening) | | syndroom van multinucleaire neuronen, anhydramnion, dysplasie van nier, hypoplasie van cerebellum en hydranencefalie | | MARCH-syndroom
syndroom van multinucleaire neuronen, anhydramnion, renale dysplasie, cerebellaire hypoplasie en hydranencefalie
syndroom van multinucleaire neuronen, anhydramnion, nierdysplasie, hypoplasie van cerebellum en hydranencefalie
| | MARCH syndrome | | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome
| | A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells. |
| | Id | 1169358003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 500135 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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