raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:251639

Subependymoma

Type
Disease
Group
Disorder
Age of onset
Adult
Status
active

Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enSubependymoma
frSous-épendymomeSubépendymome
deSubependymom
esSubependimoma
itSubependimoma
nlSubependymoom
ptSubependimona
plPodwyściółczak
csSubependymom
ukСубепендимома
zh室管膜下瘤
trSubepandimom

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10D43.2NTBTindexvalidated
ICD-112A00.0YNTBTindexvalidated
ICD-112A00.5NTBTindexvalidated
ICD-11XH8FZ9Especificvalidated
MONDO0007667Evalidated
MeSHD018315Evalidated
UMLSC0206725Evalidated
GARD10070Evalidated

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

1 record
TypeClassValueAreaQualificationValidationSource
Annual incidence<1 / 1 000 000—EuropeClass onlyValidatedRARECARE surveillance of rare cancers in Europe[OTHER]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

15 annotations · validated 2019-02-19
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0002888EpendymomaDiagnostic criterion
Frequent (79-30%)
HP:0025461Abnormal cell morphology
HP:0002076Migraine
HP:0012531Pain
Occasional (29-5%)
HP:0002460Distal muscle weakness
HP:0012534Dysesthesia
HP:0001288Gait disturbance
HP:0001250Seizure
HP:0010302Spinal cord tumor
HP:0030693Supratentorial neoplasm
HP:0002013Vomiting
Very rare (<4-1%)
HP:0100013Neoplasm of the breast
HP:0002896Neoplasm of the liver
HP:0100526Neoplasm of the lung
HP:0100615Ovarian neoplasm

Run the differential on the 1 obligate / very frequent terms

Annotation source: 29054328[PMID]_29309981[PMID]_30102193[PMID]_24615997[PMID]_25957762[PMID]_28895660[PMID]

7

Sources for this card