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Items: 1 to 20 of 29

1.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present. [from GeneReviews]

MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
2.

+++

MedGen UID:
751885
Concept ID:
C2724205
Finding
3.

++++

MedGen UID:
617725
Concept ID:
C0442725
Finding
4.

Obsessive-compulsive behavior

Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). [from HPO]

MedGen UID:
109373
Concept ID:
C0600104
Mental or Behavioral Dysfunction
5.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

Genetic syndrome

MedGen UID:
651269
Concept ID:
C0567439
Disease or Syndrome
7.

Bathing self care

Ability to cleanse own body independently with or without assistive device [from NOC]

MedGen UID:
635977
Concept ID:
C0518460
Finding
8.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
9.

Focal

In terms of cancer, limited to a specific area. [from NCI_NCI-GLOSS]

MedGen UID:
61391
Concept ID:
C0205234
Spatial Concept
10.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
11.

Nutritional disorder

Disorders caused by nutritional imbalance, either overnutrition or undernutrition. [from MeSH]

MedGen UID:
811347
Concept ID:
C3714509
Disease or Syndrome
12.

Disorder of hyperalimentation

An imbalanced nutritional status resulted from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as OBESITY. [from MeSH]

MedGen UID:
219760
Concept ID:
C1257763
Disease or Syndrome
13.

Mental deficiency

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
14.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
15.

Neurobehavioral Manifestations

Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. [from MeSH]

MedGen UID:
105653
Concept ID:
C0525041
Sign or Symptom
16.

Malnutrition

Food provides the energy and nutrients you need to be healthy. If you don't get enough nutrients -- including proteins, carbohydrates, fats, vitamins, and minerals - you may suffer from malnutrition. Causes of malnutrition include:. -Lack of specific nutrients in your diet. Even the lack of one vitamin can lead to malnutrition. -An unbalanced diet. -Certain medical problems, such as malabsorption syndromes and cancers. Symptoms may include fatigue, dizziness, and weight loss. Or, you may have no symptoms. To diagnose the cause of the problem, your doctor may do blood tests and a nutritional assessment. Treatment may include replacing the missing nutrients and treating the underlying cause.  [from MedlinePlus]

MedGen UID:
56429
Concept ID:
C0162429
Disease or Syndrome
17.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
18.

Nutrition Disorders

MedGen UID:
45163
Concept ID:
C0028709
Disease or Syndrome
19.

Impulsivity

An act performed without delay, reflection, voluntary direction or obvious control in response to a stimulus. [from MeSH]

MedGen UID:
43850
Concept ID:
C0021125
Individual Behavior
20.

Intellectual disability, profound

Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [from HPO]

MedGen UID:
43816
Concept ID:
C0020796
Finding; Mental or Behavioral Dysfunction
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