Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5045357012 | PXE-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5045358019 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045359010 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045360017 | A rare genetic dermis elastic tissue disorder with characteristics of yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs and retinitis pigmentosa, in the absence of clotting abnormalities. Patient present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | est un(e) (attribut) | Autosomal recessive retinitis pigmentosa | true | Inferred relationship | Some | ||
| Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | est un(e) (attribut) | Disorder due to abnormality of dermal elastin (disorder) | true | Inferred relationship | Some | ||
| Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | localisation d'une constatation (attribut) | structure de la rétine | true | Inferred relationship | Some | 1 | |
| Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR