Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3702073010 | PEHO-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3702074016 | Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702075015 | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702076019 | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702078018 | PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3702080012 | PEHOL (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3702079014 | A rare genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3702081011 | A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Hereditary lymphedema | false | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Degenerative brain disorder | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Finding site | Brain tissue structure | false | Inferred relationship | Some | 1 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Associated morphology | Lymphatic edema | false | Inferred relationship | Some | 2 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Disorder characterized by edema | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Disorder of face (disorder) | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Disorder of limb (disorder) | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Edema of extremity (finding) | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Is a | Edema of face (finding) | true | Inferred relationship | Some | ||
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Finding site | Limb structure | true | Inferred relationship | Some | 2 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Associated morphology | Edema | true | Inferred relationship | Some | 2 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Finding site | Face structure | true | Inferred relationship | Some | 4 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Associated morphology | Edema | true | Inferred relationship | Some | 4 | |
| Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR