Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4636398011 | Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4636399015 | Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399430018 | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399431019 | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterised by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalised hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Is a | Cortical blindness (disorder) | true | Inferred relationship | Some | ||
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Finding site | Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe (body structure) | true | Inferred relationship | Some | 4 | |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Interprets | Head circumference | true | Inferred relationship | Some | 2 | |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder) | Is a | True | Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR