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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402672013 | A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402673015 | A rare, genetic multisystem disorder characterised by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Is a | Congenital nephrotic syndrome | false | Inferred relationship | Some | ||
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Is a | Steroid-resistant nephrotic syndrome | true | Inferred relationship | Some | ||
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Is a | Disorder of neuronal migration and differentiation (disorder) | true | Inferred relationship | Some | ||
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 2 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Finding site | Glomerulus structure | false | Inferred relationship | Some | 3 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Finding site | Glomerulus structure | true | Inferred relationship | Some | 2 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Interprets | Albumin measurement | true | Inferred relationship | Some | 4 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Interprets | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 3 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Has interpretation | Above reference range (qualifier value) | true | Inferred relationship | Some | 3 | |
| A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR