Congenital Abnormalities Flashcards
What is a congenital anomaly ?
An anomaly that affects a body part or physiologic function and is present at birth, caused by the abnormal ontogenic development of the fetus
Congenital malformation ?
A congenital anomaly of the structure of some body part
Define a teratogene
An agent that is able to affect normal ontogenic development and lead to a congenital anomaly
Define mutagene
It is an agent that is able to affect the genetic information on the level of DNA or on the level of chromosomes
Difference between mutagene and teratogen
All mutagenes are teratogens, but not all teratogenes are mutagenes
Chromosomal aberration ?
Numerical or structural abnormality of the karyotype
What are the types of anomaly ?
1) malformation
2) disruption
3) deformation
4) dysplasia
5) isolated anomaly
6) sequence
7) association
8) syndrome
What is a genetic disorder ?
A condition caused by the mutation of genes
Explain malformation
It is caused by an abnormal development of the organ or tissue. The organ/ tissue is abnormal from the beginning
Disruption ?
It is caused by a destructive process that affects an organ or tissue that was developing normally
Deformation
It is caused by an abnormal physical force that damages a healthy organ or tissue
Dysplasia
It is caused by an abnormal organisation of the cells in the organ / tissue
Isolated anomaly
An anomaly that is not associated with any other conditions
Sequence
Multiple anomalies that result from the pathological cascade caused by a primary insult
Association
Selected congenital anomalies that develop together
Syndrome
A complex of phenotypic traits ( anomalies ) that are typical for a defined clinical diagnosis
Q00 - Q07
Congenital malformations of the nervous system.
Q10 - Q18
Congenital malformations of eye, ear, face and neck
Q20 - Q28
Congenital malformations of the circulatory system
Q30 - Q34
Congenital malformations of the respiratory system
Q35 - Q37
Cleft lip and cleft palate
Q38 - Q45
Other congenital malformations of the digestive system
Q50 - Q56
Congenital malformations of genital organs
Q60 - Q64
Congenital malformations of the urinary system
Q65 - Q79
Congenital malformations and deformation of the musculoskeletal system
Q80 - Q89
Other congenital malformations
Q90 - Q99
Chromosomal abnormalities, not elsewhere classified
