loading...| Preferred Name | Epidermal nevus syndrome | |
| Synonyms |
Epidermal hamartoma syndrome |
|
| Definitions |
Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_35125 |
|
| alternative_term |
Epidermal hamartoma syndrome |
|
| definition |
Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35125 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Not applicable |
|
| hasDbXref |
ICD-10:Q85.8 ICD-11:LC02 MedDRA:10014985 |
|
| label |
Epidermal nevus syndrome |
|
| notation |
ORPHA:35125 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_294057 |
|
| prefixIRI |
ORDO:Orphanet_35125 |
|
| prefLabel |
Epidermal nevus syndrome |
|
| present_in |
Worldwide AND has_cases/families_value : 400.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_294057 |
|
| subClassOf |