raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:183497

Genetic neuromuscular disease

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 neuromuscular disease
frMaladie neuromusculaire génétique
deNeuromuskuläre Krankheit, genetisch bedingte
esEnfermedad neuromuscular genética
itMalattia neuromuscolare genetica
nlGenetische neuromusculaire ziekte
ptDoença neuromuscular genética
plChoroba nerwowo-mięśniowa uwarunkowana genetycznie
csGeneticky podmíněná neuromuskulární onemocnění
ukГенетично обумовлене нервово-мязове захворювання
zh遗传性神经肌肉疾病
trGenetik nöromüsküler hastalık
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5680567Evalidated

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 (5):

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