raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98745

Neurological channelopathy of the central nervous system due to a genetic calcium channel defect

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
enNeurological channelopathy of the central nervous system due to a genetic calcium channel defect
frCanalopathie neurologique génétique associée au canal calcique du système nerveux central
deIonenkanalkrankheit des ZNS, bei genetisch bedingtem Kalziumkanaldefekt
esCanalopatía neurológica del sistema nervioso central por un defecto genético de los canales de calcio
itCanalopatia neurologica del sistema nervoso centrale da difetto genetico del canale del calcio
nlNeurologische kanalopathie van centraal zenuwstelsel door genetisch defect van calciumkanaal
ptCanalopatia neurológica do sistema nervoso central por defeito genético do canal de cálcio
plNeurologiczna kanałopatia centralnego układu nerwowego z powodu genetycznego defektu kanału wapniowego
csKanálopatie centrálního nervového systému způsobené geneticky podmíněnou poruchou vápníkového kanálu
ukНеврологічна каналопатія центральної нервової системи внаслідок генетичного дефекту кальцієвих каналів
zh遗传性氯通道缺陷所致神经离子通道病
trGenetik kalsiyum kanal bozukluğuna bağlı merkezi sinir sisteminin nörolojik kanalopatisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681707Evalidated

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