Terminology Service for NFDI4Health
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neurofibromatosis type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0018975

A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. [ https://orcid.org/0000-0001-5208-3432 ]

Term info

Label

neurofibromatosis type 1

Synonyms
  • NF1
  • neurofibromatosis 1
  • neurofibromatosis type 1
  • neurofibromatosis, type 1
  • peripheral neurofibromatosis
database cross reference
Subsets

ordo_disease

closeMatch

http://identifiers.org/meddra/10047712

exactMatch

http://linkedlifedata.com/resource/umls/id/C0027831, http://purl.obolibrary.org/obo/DOID_0111253, https://omim.org/entry/162200, http://identifiers.org/mesh/D009456, http://identifiers.org/snomedct/92824003, http://purl.obolibrary.org/obo/NCIT_C3273, http://purl.obolibrary.org/obo/Orphanet_636

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018792, http://purl.obolibrary.org/obo/MONDO_0019300

has broad synonym

neurofibromatosis

has related synonym

neurofibromatosis type 1 microdeletion syndrome, type 1 neurofibromatosis, Von Recklinghausen disease, neurofibromatosis, type I, neurofibromatosis, peripheral type, von Reklinghausen disease, Recklinghausen's disease

id

MONDO:0018975

narrowMatch

https://icd.codes/icd10cm/Q85.0

see also

https://github.com/monarch-initiative/mondo/issues/4948