Preferred Name |
Meacham syndrome |
|
Synonyms |
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome |
|
Definitions |
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_3097 |
|
alternative_term |
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome Meacham-Winn-Culler syndrome |
|
definition |
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 |
|
has_age_of_onset |
Infancy Neonatal |
|
hasDbXref |
UMLS:C1837026 MeSH:C538162 ICD-10:Q87.8 OMIM:608978 ICD-11:LD2F.1Y |
|
label |
Meacham syndrome |
|
notation |
ORPHA:3097 |
|
part_of |
http://www.orpha.net/ORDO/Orphanet_325638 |
|
prefixIRI |
ORDO:Orphanet_3097 |
|
prefLabel |
Meacham syndrome |
|
present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 13.0 (Case) |
|
treeView |
http://www.orpha.net/ORDO/Orphanet_325638 |
|
subClassOf |