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 |
136605019 | Multiple system malformation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
823759016 | Multiple system malformation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) | Is a | True | Multiple system malformation syndrome | Inferred relationship | Some | |
Luscan Lumish syndrome | Is a | True | Multiple system malformation syndrome | Inferred relationship | Some | |
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) | Is a | True | Multiple system malformation syndrome | Inferred relationship | Some | |
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome | Is a | True | Multiple system malformation syndrome | Inferred relationship | Some | |
Congenital pontocerebellar hypoplasia type 13 | Is a | True | Multiple system malformation syndrome | Inferred relationship | Some |
This concept is not in any reference sets