raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:207012

Spinal muscular atrophy associated with central nervous system anomaly

Type
Clinical group
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
enSpinal muscular atrophy associated with central nervous system anomaly
frAmyotrophie spinale associée à une malformation du système nerveux central
deSpinale Muskelatrophie mit assoziierten Anomalien des Zentralnervensystems
esAtrofia muscular espinal asociada con anomalías del sistema nervioso central
itAtrofia muscolare spinale associata ad alterazione del sistema nervoso centrale
nlSpinale spieratrofie geassocieerd met anomalie van centraal zenuwstelselSpinale musculaire atrofie geassocieerd met anomalie van centraal zenuwstelsel
ptAtrofia muscular espinhal associada a anomalia do sistema nervoso central
plRdzeniowy zanik mięśni związany z anomalią centralnego układu nerwowego
csSpinální svalová atrofie asociovaná s anomálií centrálního nervového systému
ukСпінальна мязова атрофія, повязана з аномалією центральної нервової системи
zh中枢神经系统异常相关的脊髓肌肉萎缩
trMerkezi sinir sistemi anomalisi ilişkili spinal müsküler atrofi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO16131Evalidated
UMLSC5680818Evalidated

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 (4):

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