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 |
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 |
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 |
3330230014 | A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
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 |
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 |
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 |
601951000274117 | 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 |
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 characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Congenital anomaly of hand (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised 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 | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Dysostosis | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Congenital anomaly of visual system | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Split foot | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Bone structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 8 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 9 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 8 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 9 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Entire digit | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 9 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | anomalie du développement | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised 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 | Existential restriction modifier (core metadata concept) | 6 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Foot structure | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 8 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Hand structure (body structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised 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 | Existential restriction modifier (core metadata concept) | 1 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Foot structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised 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 | Existential restriction modifier (core metadata concept) | 2 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Hand structure (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Congenital dysplasia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised 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 | Existential restriction modifier (core metadata concept) | 3 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Finding site | Entire lesser toe (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)