raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:99858

Idiopathic syringomyelia

Type
Clinical subtype
Group
Subtype of disorder
Status
active

Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enIdiopathic syringomyelia
frSyringomyélie idiopathique
deSyringomyelie, idiopathische
esSiringomielia idiopática
itSiringomielia idiopatica
nlIdiopathische syringomyelie
ptSiringomielia, idiopática
plIdiopatyczna jamistość rdzenia
csIdiopatická syringomyelie
ukІдіопатична сирингомієлія
zh特发性脊髓空洞症
trİdiyopatik siringomiyeli

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10G95.0NTBTattributedvalidated
ICD-118D66.0Especificvalidated
MONDO0020510Evalidated
UMLSC4511700Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card