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Prader-Willi syndrome

disorder
SNOMED 89392001CUI C0032897

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Somatrem

substance

Somatropin

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hypotonia, in neonatal onset
Always present (100%)HP:0001319
Mental deficiency
Always present (100%)HP:0001249
Abnormal temper tantrums
Very frequent (80-99%)HP:0025160
Autoagression
Very frequent (80-99%)HP:0100716
Central hypotonia
Very frequent (80-99%)HP:0001252
Cryptorchidism
Very frequent (80-99%)HP:0000028
Decreased body height
Very frequent (80-99%)HP:0004322
Deglutition disorder
Very frequent (80-99%)HP:0002015
Excessive, persistent worry and fear
Very frequent (80-99%)HP:0000739
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Generalised decreased muscle tone
Very frequent (80-99%)HP:0001290
Growth failure
Very frequent (80-99%)HP:0001510
Hypoplastic hands
Very frequent (80-99%)HP:0004279
Infertility
Very frequent (80-99%)HP:0000789
Isolated hypogonadotropic hypogonadism
Very frequent (80-99%)HP:0000044
Narrow palm
Very frequent (80-99%)HP:0004283
No development of motor milestones
Very frequent (80-99%)HP:0001270
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Tube feeding
Very frequent (80-99%)HP:0033454
Abdominal obesity
Frequent (30-79%)HP:0012743
Abnormal REM sleep
Frequent (30-79%)HP:0002494
Behavioural disorders
Frequent (30-79%)HP:0000708
Brain imaging abnormality
Frequent (30-79%)HP:0410263
Central sleep apnea
Frequent (30-79%)HP:0010536
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Chronic constipation
Frequent (30-79%)HP:0012450
Clitoral hypoplasia
Frequent (30-79%)HP:0000060
Cutaneous photosensitivity
Frequent (30-79%)HP:0000992
Decreased activity of gonads
Frequent (30-79%)HP:0000135

Related Conditions

Congenital hypogonadotropic hypogonadism(parent)
Neurodevelopmental disorder(parent)
Multiple system malformation syndrome(parent)
Genetic syndromic childhood obesity(parent)

Quick Facts

SNOMED CT
89392001
UMLS CUI
C0032897
Fully Specified Name
Prader-Willi syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Known Treatments
2
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.