Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy

Preferred Label : Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy;

Symbol : MSL;

CISMeF acronym : MSL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipomatosis, familial benign cervical; Lipodystrophy, cephalothoracic;

Description : Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose tissue. It is associated with high ethanol intake and may be complicated by somatic and autonomic neuropathy and by the infiltration of the adipose tissue at the mediastinal level (summary by Enzi et al., 2002).;

Inheritance : Autosomal dominant;

Prefixed ID : #151800;

Details

Origin ID

151800;

UMLS CUI

C0023804;

Automatic exact mappings (from CISMeF team)
- Leiomyosarcoma [MedDRA Preferred Term]
- Leiomyosarcomas [MedDRA High Level Term]
- Maritime sign language (qualifier value) [SNOMED CT concept]
- Master of Science in Law [NCIt concept]
- leiomyosarcoma [MeSH Descriptor]
- leiomyosarcoma [MeSH concept]
- leiomyosarcoma, nos [SNOMED Notion]
- limb-mammary syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Benign symmetric lipomatosis (disorder) [Inactive SNOMED CT concept]
- Benign symmetrical lipomatosis [ICD-11 More detail]
- Cervical Symmetrical Lipomatosis [NCIt concept]
- Madelung's disease [MedDRA LLT]
- Multiple symmetric lipomatosis [MedDRA LLT]
- Multiple symmetric lipomatosis [ORDO Disease]
- Multiple symmetrical lipomatosis (disorder) [SNOMED CT concept]
- launois-bensaude's lipomatosis [SNOMED Notion]
- lipomatosis, multiple symmetrical [MeSH Descriptor]
- lipomatosis, multiple symmetrical [MeSH concept]
- multiple symmetric lipomatosis [DO Concept]
- multiple symmetrical lipomatosis [DO Concept]
DO Cross reference
- multiple symmetric lipomatosis [DO Concept]
Genes related to phenotype
- Mitofusin 2 [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Lipoma [HPO term]
- Peripheral neuropathy [HPO term]
ORDO concept(s)
- Multiple symmetric lipomatosis [ORDO Disease]
See also inter- (CISMeF)
- cervical lipoma [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign symmetric lipomatosis (disorder) [Inactive SNOMED CT concept]
- Cervical Symmetrical Lipomatosis [NCIt concept]
- Lipomatosis [NCIt concept]
- Madelung's disease [MedDRA LLT]
- Madelung's neck (disorder) [Inactive SNOMED CT concept]
- Multiple symmetric lipomatosis [ORDO Disease]
- Multiple symmetric lipomatosis [MedDRA LLT]
- Multiple symmetrical lipomatosis (disorder) [SNOMED CT concept]
- lipomatosis, multiple symmetrical [MeSH Descriptor]
- lipomatosis, multiple symmetrical [MeSH concept]
- multiple symmetrical lipomatosis [DO Concept]

Keyword's position in hierarchy(ies) :

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