Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5234360014 | Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234361013 | Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234362018 | A rare genetic disease with a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum and prominent ears. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Is a | Congenital anomaly of eye | true | Inferred relationship | Some | ||
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Finding site | Eye structure | true | Inferred relationship | Some | 2 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR