lipoid proteinosis of urbach and wiethe

Preferred Label : lipoid proteinosis of urbach and wiethe;

MeSH definition : An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.;

MeSH synonym : lipoid proteinosis, urbach-wiethe; lipoidproteinosis; lipoproteinosis; urbach-wiethe disease; urbach wiethe disease; urbach-wiethe lipoid proteinosis; urbach wiethe lipoid proteinosis; urbach-wiethe syndrome; hyalinosis cutis et mucosae;

Wikipedia link : https://en.wikipedia.org/wiki/Urbach-wiethe syndrome;

Details

Origin ID

D008065;

UMLS CUI

C0023795;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Hyalinosis cutis et mucosae [PASCAL descriptor]
- Lipoid proteinosis [ICD-11 More detail]
- Other disorders of lipoprotein metabolism [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Lipid proteinosis [MedDRA Preferred Term]
- Lipid proteinosis (disorder) [SNOMED CT concept]
- Lipoid Proteinosis of Urbach and Wiethe [NCIt concept]
- Lipoid proteinosis [ORDO Disease]
- Lipoid proteinosis of urbach and wiethe [OMIM Phenotype]
- lipid proteinosis [SNOMED Notion]
- lipoid proteinosis [Disease (Nov.)]
- lipoid proteinosis [DO Concept]
DO Cross reference
- lipoid proteinosis [DO Concept]
Manual NTBT mappings (CISMeF)
- Genetic dermis disorder [ORDO Disease]
- Other dermis disorder [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
Record concept(s)
- lipoid proteinosis of urbach and wiethe [MeSH concept]
See also
- Hyaline Fibromatosis Syndrome [MeSH Descriptor]
- lipoproteins [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lipid proteinosis [MedDRA Preferred Term]
- Lipid proteinosis (disorder) [SNOMED CT concept]
- Lipoid Proteinosis of Urbach and Wiethe [NCIt concept]
- Lipoid proteinosis [ORDO Disease]
- Lipoid proteinosis of urbach and wiethe [OMIM Phenotype]
- lipid proteinosis [SNOMED Notion]
- lipoid proteinosis [DO Concept]
- lipoid proteinosis [Disease (Nov.)]

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