Congenital malformation

Code	`276654001`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20030731

88007900911p15 duplication syndrome disorder

73403000912q15q21.1 microdeletion syndrome disorder

2925700013q partial monosomy syndrome disorder

77134000715q11.2 microdeletion syndrome disorder

71942700115q11q13 microduplication syndrome disorder

69925400915q13.3 microdeletion disorder

76871300315q13.3 microduplication syndrome disorder

73351800016p11.2p12.2 microduplication syndrome disorder

71957800516p13.11 microduplication syndrome disorder

77076000616q24.1 microdeletion syndrome disorder

71958000416q24.3 microdeletion syndrome disorder

88009300217q11 deletion syndrome disorder

89011000417q23.1-q23.2 duplication syndrome disorder

89011600517q24-qter duplication syndrome disorder

7196000061p21.3 microdeletion syndrome disorder

6993060031p36 deletion syndrome disorder

6993050041q21.1 microdeletion disorder

89011700120p12.2 deletion syndrome disorder

7196580062q24 microdeletion syndrome disorder

8901230063p25.3 deletion syndrome disorder

8901250047p12-p14 deletion syndrome disorder

8901270077p21.1 deletion syndrome disorder

7733260037q31 microdeletion syndrome disorder

8901280029p24.3 deletion syndrome disorder

8901300009q34 deletion syndrome disorder

15890002Albinism disorder

734349003Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 disorder

711153001Bowen-Conradi syndrome disorder

699307007Chromosome 16p11.2 deletion syndrome disorder

702357000Chromosome 2q37 deletion syndrome disorder

719808002Chromosome Xp11.3 microdeletion syndrome disorder

445294008Common atrioventricular orifice in double inlet ventricle disorder

77269002Complete trisomy 16 syndrome disorder

51500006Complete trisomy 18 syndrome disorder

53346000Complete trisomy 20 syndrome disorder

41040004Complete trisomy 21 syndrome disorder

71703005Complete trisomy 22 syndrome disorder

253937004Congenital abnormality of lower limb and pelvic girdle disorder

92967005Congenital absence of genital tubercle disorder

363025000Congenital anomaly of back disorder

363026004Congenital anomaly of body cavity disorder

363027008Congenital anomaly of body wall disorder

9904008Congenital anomaly of cardiovascular system disorder

88721000119100Congenital anomaly of craniovertebral junction disorder

69518005Congenital anomaly of digestive system disorder

4184009Congenital anomaly of endocrine gland disorder

87290003Congenital anomaly of head disorder

38164009Congenital anomaly of integument disorder

60475009Congenital anomaly of limb disorder

721153000Congenital anomaly of mother complicating pregnancy disorder

73573004Congenital anomaly of musculoskeletal system disorder

40052002Congenital anomaly of neck disorder

88425004Congenital anomaly of nervous system disorder

40888008Congenital anomaly of the haematopoietic system disorder

78626001Congenital anomaly of trunk disorder

127329003Congenital anomaly of visual system disorder

276655000Congenital deformity disorder

254154003Congenital ectodermal defect disorder

205545009Congenital elephantiasis disorder

205838004Congenital hemihypertrophy disorder

417651000Congenital hereditary endothelial dystrophy disorder

93260007Congenital hypoplasia of genital tubercle disorder

878878007Congenital malformation caused by valproic acid disorder

890372006Congenital malformation of lymphatic system of cervicofacial region disorder

275260000Congenital malformation of the respiratory system disorder

400038003Congenital malformation syndrome disorder

398696001Congenital pigmented melanocytic naevus disorder

41337007Conjoined twins disorder

204921008Cyst of mesonephric duct disorder

721812005Cyst of paramesonephric duct disorder

402810002Developmental malformation of branchial arch disorder

41495000Disseminated superficial actinic porokeratosis disorder

733521003Distal 16p11.2 microdeletion syndrome disorder

770905005Distal 7q11.23 microdeletion syndrome disorder

773325004Distal 7q11.23 microduplication syndrome disorder

770902008Distal monosomy 12p disorder

782674007Distal monosomy 7p syndrome disorder

764500002Distal trisomy 20q syndrome disorder

763276000Distal trisomy 7p syndrome disorder

276720006Dysmorphism disorder

276752006Embryological remnant disorder

82520000Embryonic cyst of Gartner's duct disorder

716709002FRAXE intellectual disability syndrome disorder

716708005FRAXF syndrome disorder

123644009Gynandromorphism syndrome disorder

191169008Hereditary elliptocytosis disorder

37548006Hypopigmentation-immunodeficiency disease disorder

723332005Isodicentric chromosome 15 syndrome disorder

234095009Lymphatic malformation disorder

764461004Mosaic trisomy 10 syndrome disorder

253828000Mullerian aplasia disorder

401046009Nicolaides-Baraitser syndrome disorder

770944002Oculootodental syndrome disorder

1172899000PMP22-RAI1 contiguous gene duplication syndrome disorder

264480008Persistent Gartner's duct disorder

718227006Proximal 16p11.2 microdeletion syndrome disorder

765142003Proximal 16p11.2 microduplication syndrome disorder

57838006Retinitis pigmentosa-deafness syndrome disorder

698601005Single congenital anomaly disorder

14821001Situs ambiguus disorder

43876007Situs inversus viscerum disorder

249491000119100Structural developmental anomalies of neurenteric canal disorder

205620000Trisomy 13 - mitotic nondisjunction mosaicism disorder

205619006Trisomy 13, meiotic nondisjunction disorder

Synonyms

Parents (2)

Children (104)