Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3308247010 | Syndromic recessive X-linked ichthyosis (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3308248017 | Syndromic recessive X-linked ichthyosis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3308249013 | Syndromic X-linked ichthyosis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 698341000146112 | X-gebonden recessieve ichthyosis (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 698351000146110 | X-gebonden recessieve ichthyosis | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3308250013 | Refers to cases of recessive X-linked ichthyosis (RXLI) that are associated with extracutaneous manifestations as part of a syndrome. It affects almost exclusively males. Cutaneous manifestations include hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. Transmission is X-linked recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Syndromic recessive X-linked ichthyosis (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | ||
| Syndromic recessive X-linked ichthyosis (disorder) | Is a | X-linked ichthyosis with steryl-sulfatase deficiency | true | Inferred relationship | Some | ||
| Syndromic recessive X-linked ichthyosis (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 2 | |
| Syndromic recessive X-linked ichthyosis (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR