Neurofibromatosis, type III, mixed central and peripheral

Preferred Label : Neurofibromatosis, type III, mixed central and peripheral;

Symbol : NF3A;

CISMeF acronym : NF III; NF3A; NF3;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Neurofibromatosis, type III, of riccardi; Nf III; Neurofibromatosis, type III, riccardi type; NF3;

Included titles and symbols : Neurofibromas, palmar cutaneous;

Inheritance : Autosomal dominant;

Prefixed ID : 162260;

Détails

Origin ID

162260;

UMLS CUI

C2931480;

Automatic exact mappings (from CISMeF team)
- Neurofibromatosis, Type 3, mixed central and peripheral [MeSH concept]
- neurofibromas, palmar cutaneous [MeSH concept]
- neurofibromatosis, type 3, mixed central and peripheral [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Full schwannomatosis [ORDO Disease]
- Neurofibromatosis type 3 [ICD-11 Sub-sub category]
- Neurofibromatosis type 3 (disorder) [Inactive SNOMED CT concept]
- neurofibromatosis 3 [MeSH concept]
False automatic mappings
- POU Domain, Class 2, Transcription Factor 1 [NCIt concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral vestibular Schwannoma [HPO term]
- Few cafe-au-lait spots [HPO term]
- Lisch nodules [HPO term]
- Meningioma [HPO term]
- Palmar neurofibromas [HPO term]
- Paraspinal neurofibromas [HPO term]
- Posterior fossa and upper cervical meningiomas [HPO term]
ORDO concept(s)
- Full schwannomatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurofibromatosis, Type 3, mixed central and peripheral [MeSH concept]
- neurofibromatosis, type 3, mixed central and peripheral [MeSH Supplementary Concept]

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