Fibrosclerosis, multifocal

Preferred Label : Fibrosclerosis, multifocal;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Retroperitoneal fibrosis, familial; Mediastinal fibrosis, familial;

Description : Comings et al. (1967) reported 2 brothers, offspring of a first-cousin marriage, who had different combinations of retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel sclerosing thyroiditis, and pseudotumor of the orbit. One of the brothers had fibrotic contracture of the fingers. Goldbach et al. (1983) reported mediastinal and retroperitoneal fibrosis in 2 sisters with seronegative spondylarthropathy. Neither was HLA-B27-positive. Phills et al. (1973) reported retroperitoneal fibrosis in 3 sibs. Zabetakis et al. (1979) raised the possibility that retroperitoneal fibrosis is a manifestation of a collagen vascular disease. *FIELD* RF 1. Comings, D. E.; Skubi, K. B.; Van Eyes, J.; Motulsky, A. G.: Familial multifocal fibrosclerosis: findings suggesting that retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel's thyroiditis, and pseudotumor of the orbit may be different manifestations of a single disease. Ann. Intern. Med. 66: 884-892, 1967. 2. Goldbach, P.; Mohsenifar, Z.; Salick, A. I.: Familial mediastinal fibrosis associated with seronegative spondylarthropathy. Arthritis Rheum. 26: 221-225, 1983. 3. Phills, J. A.; Geggie, P.; Hidvegi, R. I.; Oliva, L. A.: Retroperitoneal fibrosis in three siblings with the sickle cell trait. Canad. Med. Assoc. J. 108: 1025-1029, 1973. 4. Zabetakis, P. M.; Novich, R. K.; Matarese, R. A.; Michelis, M. F.: Idiopathic retroperitoneal fibrosis: a systemic connective tissue disease? J. Urol. 122: 100-102, 1979. *FIELD* CS Abdomen: Retroperitoneal fibrosis Thorax: Mediastinal fibrosis Liver: Sclerosing cholangitis Neck: Riedel sclerosing thyroiditis;

Inheritance : Autosomal recessive;

Prefixed ID : 228800;

Details

Origin ID

228800;

UMLS CUI

C0494949;

Automatic exact mappings (from CISMeF team)
- Multifocal Fibrosclerosis [NCIt concept]
- Multifocal fibrosclerosis [PASCAL descriptor]
- Multifocal fibrosclerosis [ICD-11 More detail]
- Multifocal fibrosclerosis [ICD-10 Sub-category]
- Multifocal fibrosclerosis [ICD-10 Sub-category (who)]
- Multifocal fibrosclerosis [MeSH concept]
- Multifocal fibrosclerosis (disorder) [SNOMED CT concept]
- multifocal fibrosclerosis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Fibrosis retroperitoneal [MedDRA LLT]
- IgG4-related retroperitoneal fibrosis [ORDO Disease]
- RETROPERITONEAL FIBROSIS [WHO-ART Preferred Term]
- Retroperitoneal Fibrosis [NCIt concept]
- Retroperitoneal fibrosis [PASCAL descriptor]
- Retroperitoneal fibrosis [ICD-11 Subcategory]
- Retroperitoneal fibrosis [ACR pathology]
- Retroperitoneal fibrosis [ACR pathology]
- Retroperitoneal fibrosis [HPO term]
- Retroperitoneal fibrosis [MedDRA Preferred Term]
- Retroperitoneal fibrosis (disorder) [SNOMED CT concept]
- retroperitoneal fibrosis [Disease (Nov.)]
- retroperitoneal fibrosis [Radlex concept]
- retroperitoneal fibrosis [MeSH Descriptor]
- retroperitoneal fibrosis [SNOMED Notion]
- retroperitoneal fibrosis [MeSH concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Abnormality of the liver [HPO term]
- Abnormality of the neck [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Joint contracture of the hand [HPO term]
- Retroperitoneal fibrosis [HPO term]
- Sclerosing cholangitis [HPO term]
- Thyroiditis [HPO term]
ORDO concept(s)
- IgG4-related retroperitoneal fibrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multifocal Fibrosclerosis [NCIt concept]
- Multifocal fibrosclerosis [ICD-10 Sub-category (who)]
- Multifocal fibrosclerosis [MeSH concept]
- Multifocal fibrosclerosis [ICD-10 Sub-category]
- Multifocal fibrosclerosis [MedDRA Preferred Term]
- Multifocal fibrosclerosis (disorder) [SNOMED CT concept]
- multifocal fibrosclerosis [MeSH Supplementary Concept]

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