raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:268820

Cranial meningocele

Type
Morphological anomaly
Group
Disorder
Age of onset
Infancy, Neonatal
Status
active

A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enCranial meningocele
frMéningocèle crâniale
deMeningozele, kraniale
esMeningocele craneal
itMeningocele cranico
nlCraniale meningocele
ptMeningocelo craniano
plPrzepuklina oponowa czaszkowa
csKraniální meningokéla
ukЧерепно-мозкова менінгоцеле
zh脑脊膜膨出
trKraniyal meningosel

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q01.0NTBTinclusionvalidated
ICD-10Q01.1NTBTinclusionvalidated
ICD-10Q01.2NTBTinclusionvalidated
ICD-10Q01.8NTBTinclusionvalidated
ICD-10Q01.9NTBTinclusionvalidated
ICD-11LA01NTBTindexvalidated
MONDO0017079Evalidated
MONDO17079Evalidated
UMLSC0009694Evalidated

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):

  • ORPHA:268817Cephalocele
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyNot yet validatedORPHANET

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

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

7

Sources for this card