ORPHA:281085
Inherited ichthyosis syndromic form
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited ichthyosis syndromic form | |
| fr | Ichtyose héréditaire syndromique | |
| de | Ichthyose, hereditäre, syndromale Form | |
| es | Ictiosis hereditaria sindrómica | |
| it | Ittiosi ereditaria, forma sindromica | |
| nl | Overgeërfde ichthyosis syndromale vorm | |
| pt | Ictiose hereditária forma sindromática | |
| pl | Dziedziczna rybia łuska postać syndromiczna | |
| cs | Dědičné syndromické ichtyózy | |
| uk | Синдромна форма спадкового іхтіозу | |
| zh | 遗传性鱼鳞病综合征 | |
| tr | Kalıtsal iktiyoz sendromik formu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD27.2 | E | specific | validated |
| MONDO | 17263 | E | validated | |
| UMLS | C5681019 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183435Inherited ichthyosis
rare genetic diseases; rare skin diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:98697OBSOLETE: Genetic keratinization disorder associated with ocular features referred to · inactive
- ORPHA:98698OBSOLETE: Ichthyosis associated with ocular features referred to · inactive
- ORPHA:98699OBSOLETE: Syndromic ichthyosis associated with ocular features referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.19 / 100 000 | France | Value and class | Not yet validated | 24393603[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/281085
- This record as JSON: /data/d/281085.json