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 |
5403531013 | A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403532018 | A rare syndromic central nervous system malformation characterised by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
3448067012 | Kousseff syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
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 |
5846161000241114 | méningocèle sacrale congénitale avec malformation cardiaque conotroncale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5846171000241118 | syndrome de Kousseff | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3429961001000110 | Kousseff-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital sacral meningocele | true | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 4 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | Sacral spine structure | false | Inferred relationship | Some | 4 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 5 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | The three membranes that surround the brain and spinal cord, consisting of the dura mater, arachnoid, and pia mater. The pia and arachnoid in combination are referred to as the leptomeninges. | false | Inferred relationship | Some | 5 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 6 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | Heart structure | false | Inferred relationship | Some | 6 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital anomaly of skeletal bone | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital anomaly of spine | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Sacral spine finding | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital anomaly of lower trunk | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Meningocele | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital malformation of the meninges | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Disorder of sacrum | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital anomaly of lower limb | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | Herniated structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | The three membranes that surround the brain and spinal cord, consisting of the dura mater, arachnoid, and pia mater. The pia and arachnoid in combination are referred to as the leptomeninges. | false | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | The three membranes that surround the brain and spinal cord, consisting of the dura mater, arachnoid, and pia mater. The pia and arachnoid in combination are referred to as the leptomeninges. | false | Inferred relationship | Some | 3 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | Herniated structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital and developmental anomalies of the nervous system | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | Congenital protrusion | false | Inferred relationship | Some | 3 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | Heart structure | true | Inferred relationship | Some | 2 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital anomaly of musculoskeletal structure of trunk | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | Protrusion | false | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | Sacral spine structure | false | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital meningocele | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital anomaly of body wall | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital anomaly of the pelvis | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | Structure of sacral vertebral column region (body structure) | false | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital anomaly of vertebral region of back | false | Inferred relationship | Some | ||
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | Structure of arch of vertebra | true | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Finding site | Sacral spinal cord meninges structure | true | Inferred relationship | Some | 3 | |
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. | Is a | Congenital spinal meningocele | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)