Preferred Name

Syringomyelia

ID

http://www.orpha.net/ORDO/Orphanet_3280

alternative_term

Hydromyelia

definition

Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3280

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

Not applicable

Autosomal dominant

hasDbXref

ICD-11:8D66

OMIM:186700

UMLS:C0039144

MeSH:D013595

MedDRA:10042928

label

Syringomyelia

notation

ORPHA:3280

Clinical group

prefixIRI

ORDO:Orphanet_3280

prefLabel

Syringomyelia

present_in

Japan AND has_point_prevalence_average_value : 1.94 AND has_point_prevalence_range : 1-9 / 100 000

New Zealand AND has_point_prevalence_average_value : 8.2 AND has_point_prevalence_range : 1-9 / 100 000

Spain AND has_point_prevalence_average_value : 9.0 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000

United Kingdom AND has_point_prevalence_average_value : 8.4 AND has_point_prevalence_range : 1-9 / 100 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_102000

http://www.orpha.net/ORDO/Orphanet_557492

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