Link to this page
Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
Jump to:
| Preferred Name | Cutis laxa | |
| Synonyms |
|
|
| Definitions |
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_209 |
|
| definition |
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=209 |
|
| has_inheritance |
Not applicable Autosomal recessive X-linked recessive Autosomal dominant
|
|
| hasDbXref |
MeSH:D003483 ICD-11:EE41.0 UMLS:C0010495 MedDRA:10011692
|
|
| label |
Cutis laxa
|
|
| notation |
Clinical group ORPHA:209
|
|
| prefixIRI |
ORDO:Orphanet_209
|
|
| prefLabel |
Cutis laxa
|
|
| present_in |
Europe AND has_birth_prevalence_average_value : 0.1 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown
|
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_180779 http://www.orpha.net/ORDO/Orphanet_139030 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_228215 |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping