[clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material, either a whole chromosome or a chromosome segment. ( CSP )]
UMLS (ICD9CM) C0008626 Relation/PAR: Aangeboren afwijking spijsvert org
Genetic Condition
Relation/CHD: Bloom syndrome
5p Deletion Syndrome
Down syndrome
FRAGILE X SYNDROME
Hypogonadotropic Hypogonadism
Prader Willi syndrome
Monosomy X
double male syndrome
Beuren syndrome
VELO-CARDIO-FACIAL SYND
Smith Magenis syndrome
Beckwith-Wiedemann Syndrome
Sex Chromosome Abnormalities
holoprosencephaly
Angelman syndrome
Branchio-Oto-Renal Syndrome
Chromosomal Disorders, Nervous System