Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3705208019 | Kopysc Barczyk Krol syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3705209010 | Pilodental dysplasia, refractive errors syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3705210017 | Pilodental dysplasia, refractive errors syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3705211018 | Euhidrotic ectodermal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3705212013 | A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4218921000052110 | syndrom med dysplasi med hår-tanddefekter och brytningsfel | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Congenital anomaly of tooth (disorder) | false | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Congenital anomaly of hair | false | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Disorder of refraction | true | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 3 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 5 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 2 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 4 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 4 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 4 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Pilodental dysplasia, refractive errors syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets