frasier syndrome

Preferred Label : frasier syndrome;

MeSH definition : A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.;

MeSH synonym : syndrome, frasier;

CISMeF synonym : Frasier; frasier's syndrome;

MeSH annotation : do not confuse with FRASER SYNDROME;

Wikipedia link : https://en.wikipedia.org/wiki/Frasier syndrome;

Details

Origin ID

D052159;

UMLS CUI

C0950122;

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)
- Frasier syndrome [ICD-11 More detail]
- Frasier syndrome [MedDRA Preferred Term]
CISMeF manual mappings
- Frasier syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Frasier Syndrome [NCIt concept]
- Frasier syndrome [DO Concept]
- Frasier syndrome [OMIM Phenotype]
- Frasier syndrome [ORDO Disease]
DO Cross reference
- Frasier syndrome [DO Concept]
Has phenotype(s) (HPO)
- Chronic renal failure [HPO term]
Manual NTBT mappings (CISMeF)
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Primary glomerular disease [ORDO Disease]
- Syndrome with 46,XY disorder of sex development [ORDO Disease]
ORDO relation(s)
- Frasier syndrome [ORDO Disease]
Record concept(s)
- frasier syndrome [MeSH concept]
See also
- fraser syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frasier Syndrome [NCIt concept]
- Frasier syndrome [OMIM Phenotype]
- Frasier syndrome [ORDO Disease]
- Frasier syndrome [DO Concept]
- Frasier syndrome [MedDRA Preferred Term]
- Frasier syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

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