Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4963720011 | Dysraphism, cleft lip and palate, limb reduction defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963721010 | Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963722015 | Medeira Dennis Donnai syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399804014 | A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399805010 | A rare developmental defect during embryogenesis disorder characterised by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Is a | Structural developmental anomalies of neurenteric canal (disorder) | true | Inferred relationship | Some | ||
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Is a | Longitudinal deficiency of limb | true | Inferred relationship | Some | ||
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Is a | Anencephalus | true | Inferred relationship | Some | ||
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Finding site | Lip structure | true | Inferred relationship | Some | 1 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Finding site | Entire limb | true | Inferred relationship | Some | 3 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Associated morphology | Abnormal shortening | true | Inferred relationship | Some | 3 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Finding site | Neurenteric canal | true | Inferred relationship | Some | 4 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Is a | Cleft palate with cleft lip | true | Inferred relationship | Some | ||
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Finding site | Palatal structure | true | Inferred relationship | Some | 5 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Dysraphism, cleft lip and palate, limb reduction defect syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR