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Items: 18

1.

Hypoventilation

A reduction in the amount of air entering the pulmonary alveoli. [from MeSH]

MedGen UID:
469022
Concept ID:
C3203358
Pathologic Function
2.

Congenital central hypoventilation

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory and autonomic regulation. It is typically characterized by a classic presentation in newborns and, rarely, a milder later-onset (LO-CCHS) presentation in toddlers, children, and adults. Classic CCHS presents in newborns as: Apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; Autonomic nervous system dysregulation (ANSD); and In some individuals, altered development of neural crest-derived structures (i.e., Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Individuals with CCHS who have been diagnosed as newborns and ventilated conservatively and consistently throughout childhood have now reached the age of 20 to 30 years; they are highly functional and live independently. LO-CCHS manifests as nocturnal alveolar hypoventilation and mild ANSD. Individuals with LO-CCHS who were not identified until age 20 years or older have now reached the age of 30 to 55 years. [from GTR]

MedGen UID:
220902
Concept ID:
C1275808
Disease or Syndrome
3.

Autonomic nervous system dysfunction

MedGen UID:
864459
Concept ID:
C4016022
Finding
4.

Central hypoventilation

MedGen UID:
812169
Concept ID:
C3805839
Finding
5.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
6.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
8.

Autonomic dysfunction

Dysfunction of the autonomic nervous system. [from HPO]

MedGen UID:
218837
Concept ID:
C1145628
Disease or Syndrome
9.

Abnormality of the nervous system

An abnormality of the nervous system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
10.

Cranioschisis

A congenital abnormality characterized by the failure of the bones of the skull to close. [from NCI]

MedGen UID:
78563
Concept ID:
C0265541
Congenital Abnormality
11.

Disorder of respiratory system

A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. [from NCI]

MedGen UID:
48421
Concept ID:
C0035204
Disease or Syndrome
12.

Respiratory symptom

Respiratory system manifestations of diseases of the respiratory tract or of other organs. [from MeSH]

MedGen UID:
20754
Concept ID:
C0037090
Sign or Symptom
13.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
14.

Diseases, Respiratory Tract

Diseases involving the RESPIRATORY SYSTEM. [from MeSH]

MedGen UID:
19750
Concept ID:
C0035242
Disease or Syndrome
15.

Respiratory insufficiency

Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed) [from MeSH]

MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
16.

Disease

A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. [from MeSH]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
17.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
18.

Congenital malformation of autonomic nervous system

MedGen UID:
927831
Concept ID:
C4302162
Congenital Abnormality
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