raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:269553

Genetic cerebral malformation

Synonyms: Genetic brain malformation

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enGenetic cerebral malformationGenetic brain malformation
frMalformation cérébrale génétique
deZerebrale Fehlbildung, genetisch bedingteHirnfehlbildung, genetisch bedingte
esMalformación genética cerebralMalformación genética del cerebro
itMalformazione cerebrale geneticaMalformazione genetica del cervello
nlGenetische cerebrale malformatieGenetische hersenmalformatie
ptMalformação cerebral genéticaMalformação do cérebro, genética
plMalformacja mózgu uwarunkowana genetycznie= en
csGeneticky podmíněné mozkové malformaceGeneticky podmíněné malformace mozku
ukГенетично обумовлена церебральна вада розвиткуГенетична вада розвитку мозку
zh遗传性脑畸形遗传性脑畸形
trGenetik serebral malformasyonGenetik beyin malformasyonu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5679762Evalidated

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):

Children (6):

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