Lipoid Proteinosis of Urbach and Wiethe

Preferred Label : Lipoid Proteinosis of Urbach and Wiethe;

NCIt related terms : LIPOPROTEINOSIS;

NCIt definition : A rare, autosomal recessive metabolic disorder characterized by hoarseness of voice, eyelid beading, skin lesions, and seizures.;

Alternative definition : CDISC: The abnormal, excessive accumulation of acellular, periodic acid-Schiff positive, pale eosinophilic material (lipoprotein-type). This is typically found in the pulmonary alveoli.;

Details

Origin ID

C84829;

UMLS CUI

C0023795;

Currated CISMeF NLP mapping
- Lipid proteinosis [MedDRA Preferred Term]
- Lipid proteinosis (disorder) [SNOMED CT 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]
- lipoid proteinosis of urbach and wiethe [MeSH Descriptor]
- lipoid proteinosis of urbach and wiethe [MeSH concept]
DO Cross reference
- lipoid proteinosis [DO Concept]
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 [ORDO Disease]
- Lipoid proteinosis of urbach and wiethe [OMIM Phenotype]
- lipid proteinosis [SNOMED Notion]
- lipoid proteinosis [DO Concept]
- lipoid proteinosis [Disease (Nov.)]
- lipoid proteinosis of urbach and wiethe [MeSH concept]
- lipoid proteinosis of urbach and wiethe [MeSH Descriptor]
concept_is_in_subset
- CDISC SEND Non-Neoplastic Finding Type Terminology [NCIt concept]
- CDISC SEND Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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