Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4607792018 | MARCH syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
4607793011 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4607794017 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4607795016 | 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. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set