Prader-Willi Syndrome

Preferred Label : Prader-Willi Syndrome;

NCIt synonyms : Prader Willi Syndrome;

NCIt related terms : Prader-Willi-Labhart Syndrome; Prader-Labhart-Willi Syndrome;

NCIt definition : A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.;

Alternative definition : NICHD: A syndrome caused by loss of the paternal copy of the q11-q13 region of chromosome 15 due to deletion, maternal uniparental disomy, or imprinting defects. The condition is characterized by infantile hypotonia, feeding difficulties, and failure to thrive in the first year of life, progressing to hyperphagia and obesity. Other common features include hypopigmentation, distinctive facial features, short stature, small hands and feet, hypogonadism, and neurobehavioral issues.;

Details

Origin ID

C75463;

UMLS CUI

C0032897;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
DO Cross reference
- Prader-Willi syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Prader Willi syndrome [Disease (Nov.)]
- Prader-Willi syndrome [ORDO Disease]
- Prader-Willi syndrome [DO Concept]
- Prader-Willi syndrome [ICD-9 code]
- Prader-Willi syndrome [MedDRA Preferred Term]
- Prader-Willi syndrome [MeSH concept]
- Prader-Willi syndrome (disorder) [SNOMED CT concept]
- Prader-willi syndrome [OMIM Phenotype]
- prader-willi syndrome [MedlinePlus Topic]
- prader-willi syndrome [MeSH Descriptor]
- prader-willi syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 15 [NCIt concept]

Keyword's position in hierarchy(ies) :

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