Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5099084012 | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099085013 | PYCR2-related microcephaly, progressive leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099086014 | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099087017 | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099088010 | PYCR2-related microcephaly, progressive leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099089019 | A rare genetic syndromic intellectual disability disorder with characteristics of progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delay, with absent speech, axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down or upslanting palpebral fissures, malar hypoplasia, large malformed ears with over-folded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| PYCR2-related microcephaly, progressive leucoencephalopathy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| PYCR2-related microcephaly, progressive leucoencephalopathy | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 5 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 6 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Interprets | Head circumference | true | Inferred relationship | Some | 4 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| PYCR2-related microcephaly, progressive leucoencephalopathy | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR