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 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | morphologie associée (attribut) | Congenital malformation | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | est un(e) (attribut) | Disorder of brain (disorder) | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | est un(e) (attribut) | Congenital anomaly of head | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | survenue (attribut) | congénital | false | Inferred relationship | Some | ||
| Multiple malformation syndrome with unusual brain and/or neuromuscular findings | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Pena-Shokeir syndrome type I (disorder) | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Arthrogryposis | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Schinzel-Giedion syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Distal arthrogryposis syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Inherited arthrogryposis | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Meckel-Gruber syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| syndrome de Schwartz-Jampel (trouble) | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Royer's syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Cerebro-oculo-facio-skeletal syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| syndrome de Freeman-Sheldon (trouble) | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| syndrome de Cohen (trouble) | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| syndrome de Pallister-Hall (trouble) | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| forme létale du syndrome des ptérygiums multiples (trouble) | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Amyoplasia congenita disruptive sequence | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Ataxia-telangiectasia syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Crooked calf syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| X-linked hydrocephalus syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Pena-Shokeir phenotype | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Angelman syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Amyoplasia congenita disruptive sequence | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Neu-Laxova syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Steinert myotonic dystrophy syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Lowe syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| syndrome de Marinesco-Sjögren | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Schwartz syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Hecht syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Zellweger syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Prader-Willi syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Warburg syndrome | est un(e) (attribut) | False | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Sjögren-Larsson syndrome (disorder) | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Zellweger-like syndrome without peroxisomal anomaly (disorder) | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some | |
| Prader-Willi-like syndrome | est un(e) (attribut) | True | Multiple malformation syndrome with unusual brain and/or neuromuscular findings | Inferred relationship | Some |
Reference Sets
Description inactivation indicator reference set
FHIR