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Results: 1 to 20 of 79

1.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
2.

Autistic disorder of childhood onset

Autism comprises a clinically heterogeneous group of disorders – collectively referred to as “autism spectrum disorders” (ASD) – that share common features of impaired social relationships, impaired language and communication, and repetitive behaviors or a narrow range of interests. For most children with autism, symptoms develop gradually, although approximately 30% have a "regressive" onset usually between ages 18 and 24 months. About 50%-70% of children with autism are identified as intellectually disabled by nonverbal IQ testing and approximately 25% develop seizures. Autism can be considered complex (i.e., presence of dysmorphic features and/or microcephaly) or essential (i.e., absence of physical abnormalities and microcephaly). About 25% of children who fit the diagnostic criteria for ASD at age two to three years subsequently begin to talk and communicate, and by age six to seven years blend to varying degrees into the regular school population. The remaining 75% have lifelong disability requiring intensive parental, school, and social support. [from GeneReviews]

MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
3.

Autism

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). [from HPO]

MedGen UID:
504569
Concept ID:
CN000674
Finding
4.

Angelman syndrome-like

MedGen UID:
472054
Concept ID:
CN128785
Disease or Syndrome
5.

Autism spectrum disorders

Autism comprises a clinically heterogeneous group of disorders – collectively referred to as “autism spectrum disorders” (ASD) – that share common features of impaired social relationships, impaired language and communication, and repetitive behaviors or a narrow range of interests. For most children with autism, symptoms develop gradually, although approximately 30% have a "regressive" onset usually between ages 18 and 24 months. About 50%-70% of children with autism are identified as intellectually disabled by nonverbal IQ testing and approximately 25% develop seizures. Autism can be considered complex (i.e., presence of dysmorphic features and/or microcephaly) or essential (i.e., absence of physical abnormalities and microcephaly). About 25% of children who fit the diagnostic criteria for ASD at age two to three years subsequently begin to talk and communicate, and by age six to seven years blend to varying degrees into the regular school population. The remaining 75% have lifelong disability requiring intensive parental, school, and social support. [from GeneReviews]

MedGen UID:
307153
Concept ID:
C1510586
Mental or Behavioral Dysfunction
6.

Chemically-Induced Disorders

Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as PHARMACEUTICAL PREPARATIONS; NOXAE; and PESTICIDES. [from MeSH]

MedGen UID:
772538
Concept ID:
C3658339
Disease or Syndrome
7.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
8.

Mental Disorders Diagnosed in Childhood

Those psychiatric disorders usually first diagnosed in infancy, childhood, or adolescence. These disorders can also be first diagnosed during other life stages. [from MeSH]

MedGen UID:
101230
Concept ID:
C0525040
Mental or Behavioral Dysfunction
9.

Asperger's disorder

Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. However, the behavioral challenges associated with this condition often lead to social isolation and difficulties at school, at work, and in personal relationships. People with Asperger syndrome have average or above-average intelligence. In contrast to people with other disorders on the autism spectrum, they are not delayed in their language development. However, their ability to carry on a conversation is often impaired by a tendency to take idioms or humorous statements literally and an inability to read non-verbal cues such as body language to understand what others are feeling. They may speak in a monotone voice, have unusual mannerisms, or choose unusual topics of conversation. Individuals with Asperger syndrome tend to develop an intense interest in a particular subject. This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might also focus on an unusual interest such as bus routes or a particular type of household appliance. Often they are able to remember enormous amounts of detail on their subject of interest. They may want to share this large amount of information with others and may resist diversion to other topics. People with Asperger syndrome tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as noise or lights. Other features of Asperger syndrome may include mild impairment of motor skills. For example, basic skills such as crawling and walking may be somewhat delayed. Affected individuals may also have coordination problems that impair their ability to engage in such activities as playing ball games or riding a bicycle. This physical clumsiness may lead to further social isolation of children with Asperger syndrome. Signs and symptoms of Asperger syndrome may become apparent by the age of 3, when most children begin to develop social skills such as learning to play with others. Some affected children may come to medical attention due to delayed motor skills. In most cases, children with Asperger syndrome are diagnosed during the elementary school years, as their social behavior continues to diverge from the typical developmental path. Difficulties with social skills generally continue into adulthood, and affected individuals are at increased risk of other behavioral or psychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), depression, anxiety, and obsessive-compulsive disorder.
[from GHR]

MedGen UID:
68633
Concept ID:
C0236792
Disease or Syndrome
10.

Mental disorder

Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. [from MeSH]

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
11.

Developmental disorder

A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones. [from NCI]

MedGen UID:
3367
Concept ID:
C0008073
Mental or Behavioral Dysfunction
12.

Child Development Disorders, Pervasive

Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements. [from MeSH]

MedGen UID:
887
Concept ID:
C0008074
Mental or Behavioral Dysfunction
13.

Oculootodental Syndrome

MedGen UID:
413814
Concept ID:
C2750325
Disease or Syndrome
14.

Ameloonychohypohidrotic syndrome

MedGen UID:
400184
Concept ID:
C1863006
Disease or Syndrome
15.

Brachioskeletogenital syndrome

MedGen UID:
395249
Concept ID:
C1859384
Disease or Syndrome
16.

Otoonychoperoneal syndrome

MedGen UID:
376704
Concept ID:
C1850105
Disease or Syndrome
17.

Cleidorhizomelic syndrome

MedGen UID:
350042
Concept ID:
C1861515
Disease or Syndrome
18.

Frontoocular syndrome

MedGen UID:
344278
Concept ID:
C1854405
Disease or Syndrome
19.

Corneodermatoosseous syndrome

MedGen UID:
342260
Concept ID:
C1852542
Disease or Syndrome
20.

Faciothoracogenital syndrome

MedGen UID:
341639
Concept ID:
C1856881
Disease or Syndrome

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