Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3308724010 | X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 3308725011 | X-linked reticulate pigmentary disorder with systemic manifestation syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3308726012 | Partington disease | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3308727015 | An extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3308728013 | An extremely rare skin disease described in only four families to date and characterised in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localised brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 | |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Is a | X-linked dominant hereditary disease | true | Inferred relationship | Some | ||
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Is a | Hyperpigmentation of skin | true | Inferred relationship | Some | ||
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Is a | Inherited cutaneous hyperpigmentation | false | Inferred relationship | Some | ||
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Associated morphology | Hyperpigmentation | false | Inferred relationship | Some | 2 | |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Is a | Genetic disorder of skin pigmentation | true | Inferred relationship | Some | ||
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| X-linked reticulate pigmentary disorder with systemic manifestation syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set
FHIR