Myelofibrosis - CISMeF

Preferred Label : Myelofibrosis;

CISMeF acronym : MMM;

Type : Phenotype, molecular basis known;

Included titles and symbols : Myelofibrosis with myeloid metaplasia; MMM;

Inheritance : Somatic mutation;

Molecular basis : Susceptibility conferred by somatic mutation in the homolog of the myeloproliferative leukemia virus gene (MPL, 159530.0011); Susceptibility conferred by somatic mutation in the calreticulin gene (CALR, 109091.0001); Susceptibility conferred by somatic mutation in the SH2B adaptor protein 3 (SH2B3, 605093.0001); Susceptibility conferred by somatic mutation in the Janus kinase 2 gene (JAK2, 147796.0001);

Prefixed ID : #254450;

Details

Origin ID

254450;

UMLS CUI

C0026987;

Automatic exact mappings (from CISMeF team)
- Myelofibrosis [ICD-9 code]
- Myelofibrosis Assessment [NCIt concept]
- Myelofibrosis with myeloid metaplasia [ICD-11 More detail]
- Myelofibrosis with myeloid metaplasia [ICD-9 code]
- Primary myelofibrosis [ICD-11 Extension code]
CISMeF manual mappings
- Acute panmyelosis with myelofibrosis [ORDO Disease]
Currated CISMeF NLP mapping
- MYELOFIBROSIS [WHO-ART Preferred Term]
- Myelofibrosis [MedDRA Preferred Term]
- Myelofibrosis [HPO term]
- Myelofibrosis [PASCAL descriptor]
- Myelofibrosis [NCIt concept]
- Myelofibrosis (disorder) [SNOMED CT concept]
- Primary myelofibrosis [ORDO Disease]
- Primary myelofibrosis (disorder) [SNOMED CT concept]
- Primary myelofibrosis (morphologic abnormality) [SNOMED CT concept]
- myelofibrosis [Disease (Nov.)]
- myelofibrosis [Radlex concept]
- myelofibrosis [DO Concept]
- primary myelofibrosis [MeSH Descriptor]
DO Cross reference
- myelofibrosis [DO Concept]
Genes related to phenotype
- Calreticulin [OMIM gene]
- Janus kinase 2 [OMIM gene]
- Mpl protooncogene, thrombopoietin receptor [OMIM gene]
- Sh2b adaptor protein 3 [OMIM gene]
HPO term(s)
- Fever [HPO term]
- Myelofibrosis [HPO term]
- Myeloproliferative disorder [HPO term]
- Pallor [HPO term]
- Purpura [HPO term]
- Somatic mutation [HPO term]
- Splenomegaly [HPO term]
Not associated HPO term(s)
- Hemophagocytosis [HPO term]
ORDO concept(s)
- Primary myelofibrosis [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Agnogenic myeloid metaplasia [MedDRA LLT]
- MYELOFIBROSIS [WHO-ART Preferred Term]
- Myelofibrosis [MedDRA Preferred Term]
- Myelofibrosis [NCIt concept]
- Myelofibrosis [HPO term]
- Myelofibrosis [ICD-9 code]
- Myelofibrosis [PASCAL descriptor]
- Myelofibrosis (disorder) [SNOMED CT concept]
- Myelosis non-leukaemic [MedDRA LLT]
- Myelosis non-leukemic [MedDRA LLT]
- Myelosis-non-leukaemic [MedDRA LLT]
- myelofibrosis [Radlex concept]
- myelofibrosis, nos [SNOMED Notion]
- myelosclerosis, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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