Coffin-Lowry syndrome

Preferred Label : Coffin-Lowry syndrome;

MeSH definition : A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.;

MeSH synonym : syndrome, coffin-lowry; coffin syndrome; syndrome, coffin; mental retardation with osteocartilaginous abnormalities; coffin lowry syndrome;

CISMeF synonym : Coffin-Lowry; Coffin-Lowry's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Coffin-lowry syndrome;

Details

Origin ID

D038921;

UMLS CUI

C0265252;

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]
Currated CISMeF NLP mapping
- Coffin Lowry syndrome [Disease (Nov.)]
- Coffin-Lowry Syndrome [NCIt concept]
- Coffin-Lowry syndrome [DO Concept]
- Coffin-Lowry syndrome [PASCAL descriptor]
- Coffin-Lowry syndrome [ICD-11 More detail]
- Coffin-Lowry syndrome [MedDRA Preferred Term]
- Coffin-Lowry syndrome [ORDO Disease]
- Coffin-Lowry syndrome (disorder) [SNOMED CT concept]
- Coffin-lowry syndrome [OMIM Phenotype]
- coffin-lowry syndrome [SNOMED Notion]
DO Cross reference
- Coffin-Lowry syndrome [DO Concept]
Indexing information
- ribosomal protein S6 kinase, 90kDa, polypeptide 3 [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- X-linked syndromic intellectual disability [ORDO Disease]
ORDO relation(s)
- Coffin-Lowry syndrome [ORDO Disease]
Record concept(s)
- Coffin-Lowry syndrome [MeSH concept]
See also
- ribosomal protein s6 kinases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coffin Lowry syndrome [Disease (Nov.)]
- Coffin-Lowry Syndrome [NCIt concept]
- Coffin-Lowry syndrome [ORDO Disease]
- Coffin-Lowry syndrome [DO Concept]
- Coffin-Lowry syndrome [PASCAL descriptor]
- Coffin-Lowry syndrome [MedDRA Preferred Term]
- Coffin-Lowry syndrome (disorder) [SNOMED CT concept]
- Coffin-lowry syndrome [OMIM Phenotype]
- coffin-lowry syndrome [SNOMED Notion]

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