Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 106661014 | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 803525011 | Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Is a | Disorder of brain (disorder) | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Is a | Congenital anomaly of head | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Associated morphology | Congenital malformation | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Sjögren-Larsson syndrome (disorder) | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Schinzel-Giedion syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Distal arthrogryposis syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Inherited arthrogryposis | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Meckel-Gruber syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Schwartz-Jampel syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Royer's syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Cerebro-oculo-facio-skeletal syndrome (disorder) | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Freeman-Sheldon syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Cohen syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Pallister-Hall syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Lethal multiple pterygium syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Ataxia-telangiectasia syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Crooked calf syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| X-linked hydrocephalus syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Pena-Shokeir phenotype | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Angelman syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Amyoplasia congenita disruptive sequence | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Neu-Laxova syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Steinert myotonic dystrophy syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Lowe syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Marinesco-Sjögren syndrome (disorder) | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Schwartz syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Hecht syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Zellweger syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Prader-Willi syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Warburg syndrome | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Arthrogryposis | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Amyoplasia congenita disruptive sequence | Is a | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Zellweger-like syndrome without peroxisomal anomaly (disorder) | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Prader-Willi-like syndrome | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Pena-Shokeir syndrome type I (disorder) | Is a | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some |
Reference Sets
FHIR