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 |
3322317014 | Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322318016 | Ehlers-Danlos syndrome kyphoscoliotic and deafness type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322319012 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322320018 | Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4591661018 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3322321019 | A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Ehlers-Danlos syndrome (disorder) | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Congenital kyphoscoliosis (disorder) | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 5 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 6 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Interprets | træk vedr. funktion | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 8 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 9 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | Lateral abnormal curvature | false | Inferred relationship | Some | 10 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 10 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Musculoskeletal structure of spine | false | Inferred relationship | Some | 10 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 8 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 9 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Musculoskeletal structure of spine | true | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Congenital anomaly of vertebral region of back | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | Lateral abnormal curvature | true | Inferred relationship | Some | 1 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Skeletal dysplasia | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Congenital deformity | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Connective tissue structure | true | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Congenital deformity of spine | false | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 5 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Is a | Ehlers-Danlos syndrome kyphoscoliotic type (disorder) | true | Inferred relationship | Some | ||
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Finding site | Musculoskeletal structure of spine | true | Inferred relationship | Some | 7 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Associated morphology | Anteroposterior abnormal curvature (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets