Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module | Reference Sets |
| 3448066015 | Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3448067012 | Kousseff syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3448070011 | Congenital sacral meningocele with conotruncal heart defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | US English: Acceptable (foundation metadata concept) |
| 3448071010 | Congenital sacral meningocoele with conotruncal heart defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Acceptable (foundation metadata concept) |
| 3448068019 | Syndrome that is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | US English: Preferred (foundation metadata concept) |
| 3448069010 | Syndrome that is characterised by the association of conotruncal heart defects, myelomeningocoele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Only five cases have been reported in the literature. The identification, by FISH, of 22q11.2 deletions in the majority of reported cases (including the original cases described by Kousseff) indicated that this syndrome is part of the variable clinical spectrum of monosomy 22q11. However, the absence of a 22q11.2 deletion in one patient suggests Kousseff syndrome to be a causally heterogeneous disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital sacral meningocele | false | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital anomaly of spine | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Sacral spine finding | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital anomaly of lower trunk | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Meningocele (disorder) | false | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital malformation of the meninges | false | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Disorder of sacrum | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital anomaly of lower limb (disorder) | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital and developmental anomalies of the nervous system | false | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital anomaly of musculoskeletal structure of trunk | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Is a | Congenital meningocele | true | Inferred relationship | Some | ||
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Associated morphology | Herniated structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Finding site | Meninges structure | false | Inferred relationship | Some | 1 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Associated morphology | Protrusion | true | Inferred relationship | Some | 1 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Finding site | Sacral spine structure | true | Inferred relationship | Some | 1 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 2 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Finding site | Meninges structure | true | Inferred relationship | Some | 3 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 3 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 4 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Finding site | Sacral spine structure | false | Inferred relationship | Some | 4 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 5 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Finding site | Meninges structure | false | Inferred relationship | Some | 5 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Associated morphology | Developmental anomaly (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
| Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR