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 |
| 4634522015 | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634523013 | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634524019 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Congenital dystrophy of cornea (disorder) | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Congenital malformation of genital organs (disorder) | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Dysgenesis of the cerebellum | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Disorder of pelvic region of trunk (disorder) | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Hereditary corneal dystrophy | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Finding site | Entire external genitalia | true | Inferred relationship | Some | 4 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR