Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3311520017 | Ehlers-Danlos syndrome kyphoscoliotic type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3311521018 | Ehlers-Danlos syndrome kyphoscoliotic type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4591655016 | Ehlers-Danlos syndrome type 6 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4591657012 | Ehlers-Danlos syndrome type VI | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401717019 | A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401718012 | A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3311520017 | Ehlers-Danlos syndrome kyphoscoliotic type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3311521018 | Ehlers-Danlos syndrome kyphoscoliotic type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4591655016 | Ehlers-Danlos syndrome type 6 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4591657012 | Ehlers-Danlos syndrome type VI | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3311524014 | A form of Ehlers-Danlos syndrome with characteristics of hypotonia, kyphoscoliosis at birth and joint hyperextensibility. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401717019 | A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401718012 | A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalised joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3409011001000119 | Ehlers-Danlos-Syndrom, kyphoskoliotischer Typ | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
940281000172114 | syndrome d'Ehlers-Danlos type cyphoscoliotique | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
947181000172115 | EDS VIA - Ehlers-Danlos syndrome type 6A | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
940281000172114 | syndrome d'Ehlers-Danlos type cyphoscoliotique | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
947181000172115 | EDS VIA - Ehlers-Danlos syndrome type 6A | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3409011001000119 | Ehlers-Danlos-Syndrom, kyphoskoliotischer Typ | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) | Is a | True | Ehlers-Danlos syndrome kyphoscoliotic type | Inferred relationship | Existential restriction modifier (core metadata concept) | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type | Is a | True | Ehlers-Danlos syndrome kyphoscoliotic type | Inferred relationship | Existential restriction modifier (core metadata concept) |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set