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 |
5402243016 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402244010 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. | 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 | Developmental anomaly | 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 | Developmental anomaly | 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 | Degeneration | 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 | Degeneration | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)