Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3318089019 | Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318090011 | Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318091010 | This syndrome has characteristics of facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Familial visceral neuropathy | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Congenital degeneration of nervous system | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Anomalies of cerebrum | false | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Finding site | Autonomic nervous system structure | false | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 4 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 6 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 6 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Associated morphology | dégénérescence | false | Inferred relationship | Some | 5 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Finding site | Structure of Auerbach's plexus | false | Inferred relationship | Some | 5 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Congenital malformation of autonomic nervous system (disorder) | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Congenital anomaly of peripheral nerve | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Congenital anomaly of intestinal tract | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Associated morphology | dégénérescence | false | Inferred relationship | Some | 3 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 2 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Finding site | Structure of Auerbach's plexus | true | Inferred relationship | Some | 3 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Congenital anomaly of cerebrum (disorder) | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 3 | |
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) | Finding site | Structure of peripheral part of autonomic nervous system (body structure) | false | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR