Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5402779011 | Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402780014 | Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3330229016 | Karsch Neugebauer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3330231013 | Karsch Neugebauer syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5483301000241115 | syndrome de mains et pieds fendus et nystagmus | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1058031000195116 | Syndrom mit Spalthand/Spaltfuss und Nystagmus | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3454841001000116 | Karsch-Neugebauer-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 |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Autosomal dominant hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Congenital anomaly of hand (disorder) | true | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Dysostosis | true | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Congenital anomaly of visual system | true | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Split foot | true | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 7 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Bone structure | false | Inferred relationship | Some | 7 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 8 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital absence | false | Inferred relationship | Some | 9 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Entire digit | false | Inferred relationship | Some | 9 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 6 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways | false | Inferred relationship | Some | 6 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Foot structure (body structure) | false | Inferred relationship | Some | 8 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Hand structure | false | Inferred relationship | Some | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Foot structure (body structure) | true | Inferred relationship | Some | 1 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Hand structure | true | Inferred relationship | Some | 2 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Bone structure | true | Inferred relationship | Some | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways | true | Inferred relationship | Some | 3 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Entire lesser toe | true | Inferred relationship | Some | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)