prader-willi syndrome

Preferred Label : prader-willi syndrome;

MeSH definition : An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229);

MeSH synonym : syndrome, prader-willi; Willi-Prader Syndrome; Syndrome, Willi-Prader; Willi Prader Syndrome; labhart-willi syndrome; Prader Labhart Willi Syndrome; labhart-willi-prader-fanconi syndrome; syndrome, labhart-willi; syndrome, labhart-willi-prader-fanconi; labhart willi syndrome; labhart willi prader fanconi syndrome; prader willi syndrome; Prader-Labhart-Willi syndrome; syndrome, Prader-Labhart-Willi;

CISMeF synonym : Prader-Willi; prader-willi's syndrome;

Wikipedia automatic translation : Prader–Willi syndrome;

Related MeSH term : royer syndrome; Syndrome, Royer; Royer's Syndrome; Royers Syndrome; Syndrome, Royer's;

Wikipedia link : https://en.wikipedia.org/wiki/Prader–Willi syndrome;

Details

Origin ID

D011218;

UMLS CUI

C0032897;

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)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- Royer's syndrome (disorder) [Inactive SNOMED CT concept]
- royer's syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Prader Willi syndrome [Disease (Nov.)]
- Prader-Labhart-Willi syndrome [PASCAL descriptor]
- Prader-Willi Syndrome [NCIt concept]
- Prader-Willi syndrome [DO Concept]
- Prader-Willi syndrome [MedDRA Preferred Term]
- Prader-Willi syndrome [ICD-11 Subcategory]
- Prader-Willi syndrome [ICD-9 code]
- Prader-Willi syndrome [ORDO Disease]
- Prader-Willi syndrome (disorder) [SNOMED CT concept]
- Prader-willi syndrome [OMIM Phenotype]
- prader-willi syndrome [MedlinePlus Topic]
- prader-willi syndrome [SNOMED Notion]
DO Cross reference
- Prader-Willi syndrome [DO Concept]
Indexing information
- NPAP1 protein, human [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Prader-Willi syndrome due to imprinting mutation [ORDO Disease]
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 [ORDO Disease]
- Prader-Willi syndrome due to paternal 15q11q13 deletion [ORDO Disease]
- Prader-Willi syndrome due to translocation [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic obesity [ORDO Disease]
- Male infertility with impaired virilization due to an hypothalamic or pituitary disorder [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism [ORDO Disease]
- Rare male infertility [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
MedlinePlus topic(s)
- prader-willi syndrome [MedlinePlus Topic]
ORDO relation(s)
- Prader-Willi syndrome [ORDO Disease]
Record concept(s)
- Prader-Willi syndrome [MeSH concept]
- royer syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Prader-Willi habitus, osteopenia, and camptodactyly [MeSH Supplementary Concept]
- Prader-Willi-Like syndrome associated with chromosome 6 [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
See also inter- (CISMeF)
- royer's syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Prader Willi syndrome [Disease (Nov.)]
- Prader-Willi Syndrome [NCIt concept]
- Prader-Willi syndrome [ORDO Disease]
- Prader-Willi syndrome [MedDRA Preferred Term]
- Prader-Willi syndrome [DO Concept]
- Prader-Willi syndrome [ICD-9 code]
- Prader-Willi syndrome (disorder) [SNOMED CT concept]
- Prader-willi syndrome [OMIM Phenotype]
- prader-willi syndrome [SNOMED Notion]
- prader-willi syndrome [MedlinePlus Topic]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]

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