ORPHA:281097
Autosomal recessive congenital ichthyosis
Synonyms: ARCI
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- 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 | Autosomal recessive congenital ichthyosis | ARCI |
| fr | Ichtyose congénitale autosomique récessive | = en |
| de | Ichthyose, autosomal-rezessive kongenitale | = en |
| es | Ictiosis congénita autosómica recesiva | ICAR |
| it | Ittiosi congenita autosomica recessiva | = en |
| nl | Autosomaal recessieve congenitale ichthyosis | = en |
| pt | Ictiose congénita autossómica recessiva | = en |
| pl | Autosomalna recesywna rybia łuska wrodzona | = en |
| cs | Autozomálně recesivní vrozené ichtyózy | = en |
| uk | Аутосомно-рецесивний вроджений іхтіоз | = en |
| zh | 常染色体隐性遗传性先天性鱼鳞病 | = en |
| tr | Otozomal resesif doğumsal iktiyoz | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | EC20.02 | E | specific | validated |
| MONDO | 0017265 | E | validated | |
| MONDO | 17265 | E | validated | |
| UMLS | C1274215 | 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 (2):
- ORPHA:281082Inherited non-syndromic ichthyosis
rare genetic diseases; rare skin diseases - ORPHA:98571Secondary ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.5 / 100 000 | United States | Value and class | Not yet validated | 20301593[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | 8006437[PMID]_European Medicines Agency 2012[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.77 / 100 000 | Spain | Value and class | Not yet validated | 22000705[PMID]_21668430[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.1 / 100 000 | Norway | Value and class | Validated | 9887377[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.
6
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/281097
- This record as JSON: /data/d/281097.json