raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:634518

Neurofibromatosis/schwannomatosis

Synonyms: NF/SWN

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

10 of 12 languages
LangNameSynonyms
enNeurofibromatosis/schwannomatosisNF/SWN
frNeurofibromatose/schwannomatose= en
deNeurofibromatose/SchwannomatoseNF/SWN · Neurofibromatose-Spektrum-Erkrankungen
esNeurofibromatosis/schwannomatosis= en
itNeurofibromatosi/schwannomatosi= en
nlNeurofibromatose/schwannomatose= en
ptNeurofibromatose/schwanomatose= en
plNeurofibromatoza/schwannomatoza= en
csNeurofibromatóza/schwannomatóza= en
ukНейрофіброматоз/шванноматоз= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0859008Evalidated
UMLSC5816781Evalidated

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 (2):

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