pseudoxanthoma elasticum

Preferred Label : pseudoxanthoma elasticum;

MeSH definition : An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.;

MeSH hyponym : pseudoxanthoma elasticum, incomplete; Gronblad-Strandberg syndrome; Gronblad Strandberg Syndrome; Syndrome, Gronblad-Strandberg; Groenblad-Strandberg Syndrome; Elasticum, Incomplete Pseudoxanthoma; Elasticums, Incomplete Pseudoxanthoma; Incomplete Pseudoxanthoma Elasticum; Incomplete Pseudoxanthoma Elasticums; Pseudoxanthoma Elasticums, Incomplete; Pseudoxanthoma Elasticum, Autosomal Dominant; Pseudoxanthoma Elasticum, Forme Fruste;

MeSH annotation : in titles & translations use diacritic: Grönblad;

Wikipedia link : https://en.wikipedia.org/wiki/Pseudoxanthoma elasticum;

Details

Origin ID

D011561;

UMLS CUI

C0033847;

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)
- Gronblad-Strandberg syndrome (disorder) [SNOMED CT concept]
- Pseudoxanthoma elasticum, forme fruste [OMIM Phenotype]
- gronblad-strandberg syndrome [SNOMED Notion]
- systemic elastorrhexis [SNOMED Notion]
CISMeF manual mappings
- Drug-induced pseudoxanthoma elasticum (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Nevus elasticus (disorder) [SNOMED CT concept]
- PSEUDOXANTHOMA ELASTICUM [WHO-ART Preferred Term]
- Pseudoxanthoma Elasticum [NCIt concept]
- Pseudoxanthoma elasticum [PASCAL descriptor]
- Pseudoxanthoma elasticum [ICD-11 Category]
- Pseudoxanthoma elasticum [MedDRA Preferred Term]
- Pseudoxanthoma elasticum [OMIM Phenotype]
- Pseudoxanthoma elasticum [ACR pathology]
- Pseudoxanthoma elasticum [ACR pathology]
- Pseudoxanthoma elasticum [ORDO Disease]
- Pseudoxanthoma elasticum (disorder) [SNOMED CT concept]
- pseudoxanthoma elasticum [DO Concept]
- pseudoxanthoma elasticum [SNOMED Notion]
- pseudoxanthoma elasticum [Radlex concept]
DO Cross reference
- pseudoxanthoma elasticum [DO Concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
Manual NTBT mappings (CISMeF)
- Connective tissue disease with eye involvement [ORDO Disease]
- Dermis elastic tissue disorder [ORDO Disease]
- Familial restrictive cardiomyopathy [ORDO Disease]
- Rare cause of hypertension [ORDO Disease]
- Rare developmental defect with connective tissue involvement [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare genetic cause of hypertension [ORDO Disease]
MedlinePlus topic(s)
- connective tissue disorders [MedlinePlus Topic]
ORDO relation(s)
- Pseudoxanthoma elasticum [ORDO Disease]
Record concept(s)
- Gronblad-Strandberg syndrome [MeSH concept]
- pseudoxanthoma elasticum [MeSH concept]
- pseudoxanthoma elasticum, incomplete [MeSH concept]
Related MeSH Supplementary Concept(s)
- pseudoxanthoma Elasticum-Like disorder with multiple coagulation factor deficiency [MeSH Supplementary Concept]
- pseudoxanthoma elasticum, heterozygous [MeSH Supplementary 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 [NCIt concept]
- Pseudoxanthoma elasticum [OMIM Phenotype]
- Pseudoxanthoma elasticum [ORDO Disease]
- 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 [SNOMED Notion]
- pseudoxanthoma elasticum [DO Concept]
Validated automatic mappings to BTNT
- Autosomal dominant pseudoxanthoma elasticum (disorder) [SNOMED CT concept]
- autosomal dominant pseudoxanthoma elasticum [Disease (Nov.)]
Validated automatic mappings to NTBT
- Other specified congenital malformations of skin [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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