ORPHA:538238

Neurological channelopathy of the central nervous system due to a genetic chloride 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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
fr	Canalopathie neurologique génétique associée au canal chlore du système nerveux central
de	Neurologische Ionenkanalkrankheit des ZNS bei genetisch bedingtem Chloridkanaldefekt
es	Canalopatía neurológica del sistema nervioso central por un defecto genético de los canales de cloruro
it	Canalopatia neurologica genetica del sistema nervoso centrale da difetto del canale del cloro
nl	Neurologische kanalopathie van centraal zenuwstelsel door genetisch defect van chloridekanaal
pt	Canalopatia neurológica do sistema nervoso central por defeito genético do canal de cloro
pl	Kanałopatia neurologiczna ośrodkowego układu nerwowego z powodu genetycznej wady kanału chlorkowego
cs	Neurologická kanalopatie centrálního nervového systému způsobená genetickou poruchou chloridového kanálu
uk	Неврологічна каналопатія центральної нервової системи внаслідок генетично обумовленого дефекту хлоридних каналів
zh	遗传性氯化物通道缺陷诱导的中枢神经系统离子通道疾病
tr	Genetik klorür kanalı bozukluğuna bağlı merkezi sinir sisteminin nörolojik kanalopatisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5681315	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:98743Genetic neurological channelopathy of the central nervous system
rare genetic diseases

Children (2):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/538238
This record as JSON: /data/d/538238.json