Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1782791014 | PIBIDS syndrome, photosensitivity with IBIDS | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
2973045014 | Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
2973263016 | Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
2031391000052113 | PIBIDS-syndrom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Is a | Genetic defect of hair shaft (disorder) | false | Inferred relationship | Some | ||
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Occurrence | Congenital | false | Inferred relationship | Some | ||
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Skin structure | false | Inferred relationship | Some | ||
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | kongenital anomali | false | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | ||
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Hair shaft structure | false | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Hair shaft structure | false | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | kongenital anomali | false | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 3 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Hair shaft structure | false | Inferred relationship | Some | 3 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Is a | Trichothiodystrophy (disorder) | true | Inferred relationship | Some | ||
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Ectoderm structure | false | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Finding site | Hair shaft structure | true | Inferred relationship | Some | 2 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome | Associated morphology | Defect | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets