T-cell lymphoma, subcutaneous panniculitis-like

Preferred Label : T-cell lymphoma, subcutaneous panniculitis-like;

Symbol : SPTCL;

CISMeF acronym : SPTCL;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hepatitis A virus cellular receptor 2 gene (HAVCR2, 606652.0001);

Neoplasia : T-cell non-Hodgkin lymphoma, subcutaneous;

Laboratory abnormalities : Increased triglycerides (in patients with HLH); Hypofibrinogenemia (in patients with HLH); Hyperferritinemia (in patients with HLH);

Prefixed ID : #618398;

Details

Origin ID

618398;

UMLS CUI

C0522624;

Currated CISMeF NLP mapping
- Subcutaneous Panniculitis-Like T-Cell Lymphoma [NCIt concept]
- Subcutaneous panniculitic T-cell lymphoma (morphologic abnormality) [SNOMED CT concept]
- Subcutaneous panniculitic cutaneous T-cell lymphoma (disorder) [SNOMED CT concept]
- Subcutaneous panniculitis-like T-cell lymphoma [ICD-11 Category]
- Subcutaneous panniculitis-like T-cell lymphoma [ICD-11 Category]
- Subcutaneous panniculitis-like T-cell lymphoma [ORDO Disease]
- Subcutaneous panniculitis-like T-cell lymphoma [ICD-10 Sub-category]
- Subcutaneous panniculitis-like T-cell lymphoma [ICD-O code]
- Subcutaneous panniculitis-like T-cell lymphoma [MeSH concept]
- subcutaneous panniculitic T cell lymphoma [Disease (Nov.)]
- subcutaneous panniculitic t-cell lymphoma [SNOMED Notion]
- subcutaneous panniculitis-like T-cell lymphoma [MeSH Supplementary Concept]
Genes related to phenotype
- Hepatitis a virus cellular receptor 2 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Facial edema [HPO term]
- Fever [HPO term]
- Hemophagocytosis [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypofibrinogenemia [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Pancytopenia [HPO term]
- Panniculitis [HPO term]
- Splenomegaly [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Subcutaneous panniculitis-like T-cell lymphoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Subcutaneous Panniculitis-Like T-Cell Lymphoma [NCIt concept]
- Subcutaneous panniculitic T-cell lymphoma (morphologic abnormality) [SNOMED CT concept]
- Subcutaneous panniculitic cutaneous T-cell lymphoma (disorder) [SNOMED CT concept]
- Subcutaneous panniculitis-like T-cell lymphoma [MeSH concept]
- Subcutaneous panniculitis-like T-cell lymphoma [ORDO Disease]
- Subcutaneous panniculitis-like T-cell lymphoma [ICD-11 Category]
- Subcutaneous panniculitis-like T-cell lymphoma [ICD-10 Sub-category]
- Subcutaneous panniculitis-like T-cell lymphoma [ICD-O code]
- subcutaneous panniculitic T cell lymphoma [Disease (Nov.)]
- subcutaneous panniculitic t-cell lymphoma [SNOMED Notion]
- subcutaneous panniculitis-like T-cell lymphoma [MeSH Supplementary Concept]

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