Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3326229017 | Galloway Mowat syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3326230010 | Galloway Mowat syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3326231014 | Galloway syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3326232019 | Microcephaly, hiatus hernia, nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332175012 | Nephrosis, neuronal dysmigration syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332177016 | The association of nephrotic syndrome with central nervous system anomalies. Approximately 40 cases have been reported since it was first described in 1968 in two siblings with early-onset nephrotic syndrome, microcephaly and hiatus hernia. Renal biopsy may show minimal glomerular lesions, mesangial proliferation, focal segmental hyalinosis or diffuse mesangial sclerosis. Neurological symptoms include microcephaly, psychomotor retardation, convulsions, hypotonia, abnormal cerebral gyri and sulci, cortical atrophy, hydrocephalus due to aqueductal stenosis, porencephaly or encephalomalacia. Histological analyses reveal anomalies of neuron migration. Facial dysmorphology and large ears have been reported as well as hiatus hernia, which is responsible for vomiting after the first feed. There is evidence that this syndrome is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR