Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4669053017 | Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4669054011 | Cerebrorenal syndrome Perez type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4669055012 | Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13250001000146110 | syndroom van psychomotorische regressie, oculomotorische apraxie, bewegingsstoornis en nefropathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13250011000146112 | syndroom van psychomotorische regressie, oculomotorische apraxie, bewegingsstoornis en nefropathie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13250021000146119 | syndroom van psychomotorische achteruitgang, oculomotorische apraxie, bewegingsstoornis en aandoening van nier | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4669056013 | A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension and a tendency for hyperkalemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4669057016 | A rare genetic disease characterised by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension and a tendency for hyperkalaemia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Is a | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Is a | Oculomotor apraxia | true | Inferred relationship | Some | ||
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Is a | Disorder of zinc metabolism | true | Inferred relationship | Some | ||
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 3 | |
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR