Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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

http://www.orpha.net/ORDO/Orphanet_180148

http://www.orpha.net/ORDO/Orphanet_98087

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

http://www.orpha.net/ORDO/Orphanet_180148

http://www.orpha.net/ORDO/Orphanet_98087

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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