Congenital malformation   276654001

SNOMED CT code


SNOMED code276654001
nameCongenital malformation
statusactive
date introduced2002-01-31
fully specified name(s)Congenital malformation (disorder)
synonyms
  • Fetal developmental abnormality
  • Foetal developmental abnormality
  • Congenital anomaly
  • Congenital abnormality
  • Foetal malformation
  • Congenital malformation
  • Fetal malformation
  • CM - Congenital malformation
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
parents
children
  • 11p15 duplication syndrome   880079009
  • 12q15q21.1 microdeletion syndrome   734030009
  • 13q partial monosomy syndrome   29257000
  • 15q11.2 microdeletion syndrome   771340007
  • 15q11q13 microduplication syndrome   719427001
  • 15q13.3 microdeletion   699254009
  • 15q13.3 microduplication syndrome   768713003
  • 16p11.2p12.2 microduplication syndrome   733518000
  • 16p13.11 microduplication syndrome   719578005
  • 16q24.1 microdeletion syndrome   770760006
  • 16q24.3 microdeletion syndrome   719580004
  • 17q11 deletion syndrome   880093002
  • 17q23.1-q23.2 duplication syndrome   890110004
  • 17q24-qter duplication syndrome   890116005
  • 1p21.3 microdeletion syndrome   719600006
  • 1p36 deletion syndrome   699306003
  • 1q21.1 microdeletion   699305004
  • 20p12.2 deletion syndrome   890117001
  • 22q13.3 deletion syndrome   699310000
  • 2q24 microdeletion syndrome   719658006
  • 3p25.3 deletion syndrome   890123006
  • 7p12-p14 deletion syndrome   890125004
  • 7p21.1 deletion syndrome   890127007
  • 7q31 microdeletion syndrome   773326003
  • 9p24.3 deletion syndrome   890128002
  • 9q34 deletion syndrome   890130000
  • [X]Other congenital malformations   205973003  removed: 2009-01-31
  • [X]Other specified congenital malformation syndromes, not elsewhere classified   205984005  removed: 2009-01-31
  • [X]Other specified congenital malformations   205985006  removed: 2009-01-31
  • Abnormal fetal duplication   72014004
  • Accessory tragus of ear   29435005  removed: 2004-07-31
  • Albinism   15890002
  • Alpha-thalassemia intellectual disability syndrome linked to chromosome 16   734349003
  • Arnold-Chiari syndrome   27905003  removed: 2005-01-31
  • Atresia of foramen of Magendie   30299001  removed: 2004-07-31
  • Bowen-Conradi syndrome   711153001
  • Branchial cleft anomaly   362998000
  • Cat eye syndrome   26445008
  • Chromosome 16p11.2 deletion syndrome   699307007
  • Chromosome 2q37 deletion syndrome   702357000
  • Chromosome Xp11.3 microdeletion syndrome   719808002
  • Common atrioventricular orifice in double inlet ventricle   445294008
  • Complete trisomy 16 syndrome   77269002
  • Complete trisomy 18 syndrome   51500006
  • Complete trisomy 20 syndrome   53346000
  • Complete trisomy 21 syndrome   41040004
  • Complete trisomy 22 syndrome   71703005
  • Congenital abnormality of lower limb and pelvic girdle   253937004
  • Congenital absence   702626005  removed: 2019-01-31
  • Congenital absence of genital tubercle   92967005
  • Congenital anomaly of back   363025000
  • Congenital anomaly of body cavity   363026004
  • Congenital anomaly of body wall   363027008
  • Congenital anomaly of cardiovascular system   9904008
  • Congenital anomaly of craniovertebral junction   88721000119100
  • Congenital anomaly of digestive system   69518005
  • Congenital anomaly of endocrine gland   4184009
  • Congenital anomaly of fetus   702709008  removed: 2020-01-31
  • Congenital anomaly of head   87290003
  • Congenital anomaly of integument   38164009
  • Congenital anomaly of limb   60475009
  • Congenital anomaly of mother complicating pregnancy   721153000
  • Congenital anomaly of musculoskeletal system   73573004
  • Congenital anomaly of neck   40052002
  • Congenital anomaly of nervous system   88425004
  • Congenital anomaly of the hematopoietic system   40888008
  • Congenital anomaly of trunk   78626001
  • Congenital anomaly of visual system   127329003
  • Congenital deformity   276655000
  • Congenital ectodermal defect   254154003
  • Congenital elephantiasis   205545009
  • Congenital fusion of kidneys   42108003  removed: 2005-01-31
  • Congenital hemihypertrophy   205838004
  • Congenital hereditary endothelial dystrophy   417651000
  • Congenital hernia of bladder   28084002  removed: 2004-07-31
  • Congenital hypoplasia of genital tubercle   93260007
  • Congenital malformation caused by valproic acid   878878007
  • Congenital malformation of lymphatic system of cervicofacial region   890372006
  • Congenital malformation of the respiratory system   275260000
  • Congenital malformation syndrome   400038003
  • Congenital malformation syndromes due to known exogenous causes   205787009  removed: 2004-07-31
  • Congenital malformation syndromes with metabolic disturbances   205826008  removed: 2021-09-30
  • Congenital pigmented melanocytic nevus   398696001
  • Congenital red cell hypoplasia   234372009  removed: 2018-07-31
  • Cutaneous asthenia in dogs AND/OR cats   398242007  removed: 2014-01-31
  • Cyst of paramesonephric duct   721812005
  • Cyst of Wolffian duct   204921008
  • Developmental malformation of branchial arch   402810002
  • Distal 16p11.2 microdeletion syndrome   733521003
  • Distal 7q11.23 microdeletion syndrome   770905005
  • Distal 7q11.23 microduplication syndrome   773325004
  • Distal monosomy 12p   770902008
  • Distal monosomy 7p syndrome   782674007
  • Distal trisomy 20q syndrome   764500002
  • Distal trisomy 7p syndrome   763276000
  • Double monster   43452005  removed: 2017-07-31
  • Dysmorphism   276720006
  • Embryological remnant   276752006
  • Embryonic cyst of Gartner's duct   82520000
  • FRAXE intellectual disability syndrome   716709002
  • FRAXF syndrome   716708005
  • Gynandromorphism syndrome   123644009
  • Hereditary elliptocytosis   191169008
  • Hypopigmentation-immunodeficiency disease   37548006
  • Infection causing congenital anomaly   721282005  removed: 2019-07-31
  • Isodicentric chromosome 15 syndrome   723332005
  • Lymphatic malformation   234095009
  • Mosaic trisomy 10 syndrome   764461004
  • Mullerian aplasia   253828000
  • Multiple congenital malformations   116022009  removed: 2014-07-31
  • Nicolaides-Baraitser syndrome   401046009
  • Oculootodental syndrome   770944002
  • PMP22-RAI1 contiguous gene duplication syndrome   1172899000
  • Proximal 16p11.2 microdeletion syndrome   718227006
  • Proximal 16p11.2 microduplication syndrome   765142003
  • Retinitis pigmentosa-deafness syndrome   57838006
  • Single congenital anomaly   698601005
  • Situs ambiguus   14821001
  • Situs inversus viscerum   43876007
  • Structural developmental anomalies of neurenteric canal   249491000119100
  • Supernumerary cusps of mitral valve   21776004  removed: 2004-07-31
  • Trisomy 13 - mitotic nondisjunction mosaicism   205620000
  • Trisomy 13, meiotic nondisjunction   205619006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital malformation   276654001

ancestors
sorted most to least specific
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