Pseudoxanthoma Elasticum

Preferred Label : Pseudoxanthoma Elasticum;

NCIt definition : A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels.;

Details

Origin ID

C85036;

UMLS CUI

C0033847;

Automatic exact mappings (from CISMeF team)
- Other specified congenital malformations of skin [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Nevus elasticus (disorder) [SNOMED CT concept]
- PSEUDOXANTHOMA ELASTICUM [WHO-ART Preferred Term]
- Pseudoxanthoma elasticum [PASCAL descriptor]
- Pseudoxanthoma elasticum [ACR pathology]
- Pseudoxanthoma elasticum [ACR pathology]
- Pseudoxanthoma elasticum [ICD-11 Category]
- Pseudoxanthoma elasticum [MedDRA Preferred Term]
- Pseudoxanthoma elasticum [OMIM Phenotype]
- Pseudoxanthoma elasticum [ORDO Disease]
- Pseudoxanthoma elasticum (disorder) [SNOMED CT concept]
- pseudoxanthoma elasticum [DO Concept]
- pseudoxanthoma elasticum [MeSH Descriptor]
- pseudoxanthoma elasticum [MeSH concept]
- pseudoxanthoma elasticum [SNOMED Notion]
- pseudoxanthoma elasticum [Radlex concept]
DO Cross reference
- pseudoxanthoma elasticum [DO Concept]
See also inter- (CISMeF)
- Gronblad Strandberg syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PSEUDOXANTHOMA ELASTICUM [WHO-ART Preferred Term]
- Pseudoxanthoma elasticum [ORDO Disease]
- Pseudoxanthoma elasticum [OMIM Phenotype]
- Pseudoxanthoma elasticum [ACR pathology]
- Pseudoxanthoma elasticum [ACR pathology]
- Pseudoxanthoma elasticum [MedDRA Preferred Term]
- Pseudoxanthoma elasticum (disorder) [SNOMED CT concept]
- pseudoxanthoma elasticum [Radlex concept]
- pseudoxanthoma elasticum [DO Concept]
- pseudoxanthoma elasticum [SNOMED Notion]
- pseudoxanthoma elasticum [MeSH Descriptor]
- pseudoxanthoma elasticum [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ABCC6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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