Congenital disease   66091009

SNOMED CT code


SNOMED code66091009
nameCongenital disease
statusactive
date introduced2002-01-31
fully specified name(s)Congenital disease (disorder)
synonyms
  • Congenital disease
  • Congenital disorder
attributes - group1
OccurrenceCongenital   255399007
parentsDisease   64572001
children
  • 2-methyl-3-hydroxybutyric aciduria   791000124107
  • [X]Additional congenital disease classification terms   205844000  removed: 2009-01-31
  • [X]Other specified congenital malformations of integument   205980001  removed: 2009-01-31
  • Abnormal root proximity between adjacent teeth   109506007
  • Abnormal tooth eruption   42510009  removed: 2005-01-31
  • Action myoclonus renal failure syndrome   764453009
  • Amyotonia congenita   63135006
  • Anophthalmos of left eye   15665561000119100
  • Anophthalmos of right eye   450931000124100
  • Asexual dwarfism   7530009
  • Autosomal dominant congenital benign spinal muscular atrophy   763067000
  • Autosomal dominant keratitis   715339004
  • Autosomal dominant secondary polycythemia   783202008
  • Autosomal dominant slowed nerve conduction velocity   764854006
  • Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome   763312008
  • Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene   783766005
  • Benign congenital hypotonia   240080003
  • Biallelic RPE65 mutation associated retinal dystrophy   764969006
  • Biotin-thiamine-responsive basal ganglia disease   703522009
  • Blepharophimosis epicanthus inversus ptosis syndrome   715391004
  • Cap myopathy   703532002
  • Carney Stratakis syndrome   722377004
  • Charcot-Marie-Tooth disease type 4   715795005
  • Chronic diarrhea due to glucoamylase deficiency   716277000
  • Chuvash erythrocytosis   770407006
  • CNS/head/neck congenital anomaly NOS   288247004  removed: 2010-01-31
  • Combined pancreatic lipase and colipase deficiency   763212006
  • Congenital abnormal shape of arch of cervical vertebra   92890001
  • Congenital absence of entire right hand   15669441000119103
  • Congenital absence of left external ear   15983111000119107
  • Congenital absence of left ovary   15932261000119100
  • Congenital absence of right external ear   15983191000119103
  • Congenital absence of right ovary   15932221000119105
  • Congenital absence of right upper limb   15669561000119103
  • Congenital absence of soft tissue of distal phalanx of finger   450441000124103
  • Congenital accessory skin tag   84449007
  • Congenital achalasia of esophagus   700283004
  • Congenital adrenogenital syndrome   190511001  removed: 2015-01-31
  • Congenital alpha-2-antiplasmin deficiency   716746003
  • Congenital anal fissure   1085651000119109
  • Congenital analbuminemia   718721006
  • Congenital and developmental myasthenia   193216006
  • Congenital anemia   63565007
  • Congenital anomaly   443341004  removed: 2014-07-31
  • Congenital arcus juvenilis   8041000119108
  • Congenital atrophy of left lobe of liver   204788008
  • Congenital atrophy of optic nerve   722990003
  • Congenital atrophy of thyroid   237517001
  • Congenital auditory imperception   229748008
  • Congenital axial myopia   232134006
  • Congenital bowing of long bone   716098006
  • Congenital brain damage   95610008
  • Congenital calcium pyrophosphate dihydrate crystal deposition disease   713869000
  • Congenital cardiovascular disorder   762228008
  • Congenital cardiovascular disorders during pregnancy, childbirth and the puerperium   267207004
  • Congenital central hypoventilation   399040002
  • Congenital cerebellar cortical atrophy   371313002
  • Congenital chalasia of esophagus   721154006
  • Congenital choroidal fold   342841000119109
  • Congenital chromosomal disease   74345006
  • Congenital chronic diarrhea with protein-losing enteropathy   773579007
  • Congenital chylothorax   233646003
  • Congenital coloboma of iris of left eye   15665761000119107
  • Congenital coloboma of iris of right eye   15665681000119108
  • Congenital color blindness   232148006
  • Congenital complete absence of right lower limb   305031000119109
  • Congenital connective tissue disorder   363039000
  • Congenital cutaneous angiomatosis   73716000
  • Congenital cyst of fallopian tube   93048002  removed: 2018-07-31
  • Congenital cyst of vulva   31339007
  • Congenital dacryocele   726334003
  • Congenital debility of fetus   82022002
  • Congenital deficiency of alpha-fetoprotein   716698007
  • Congenital dislocation of head of left radius   15669961000119108
  • Congenital dislocation of head of right radius   15670001000119108
  • Congenital dislocation of left knee   15670801000119104
  • Congenital dislocation of right knee   15670841000119102
  • Congenital disorder of facial nerve   230541001
  • Congenital disorder of gallbladder and biliary tract   235913009
  • Congenital diverticulitis of small intestine   721646008
  • Congenital dysarthria   230785002
  • Congenital dysphasia   230786001
  • Congenital dysplasia of left hip   15666841000119108
  • Congenital dysplasia of right hip   15666881000119103
  • Congenital elephantiasis   205545009
  • Congenital elevation of right scapula   15670241000119101
  • Congenital esotropia   232093001
  • Congenital exophthalmos   93081001
  • Congenital facial asymmetry   13851000119109
  • Congenital failure of eye elevation   230529008
  • Congenital fecaliths   3886001
  • Congenital fecaliths causing obstruction   206529002
  • Congenital fibrinogen abnormality   234456000
  • Congenital forefoot varus   229845003
  • Congenital functional disorders of the colon   253778009
  • Congenital functional disorders of the small intestine   253767001
  • Congenital genu recurvatum of right knee   15671121000119107
  • Congenital genu valgum of right knee   15670561000119100
  • Congenital glaucoma   204113001
  • Congenital glenoid dysplasia   2111000119106
  • Congenital hamartosis   75523000  removed: 2014-07-31
  • Congenital hearing disorder   95827002
  • Congenital hepatic fibrosis   79607001
  • Congenital hepatomegaly   407000
  • Congenital hernia of bladder   205022009
  • Congenital hourglass stomach   62058003
  • Congenital hydrocele   82062003
  • Congenital hydrosalpinx   253825002
  • Congenital hydrothorax   734477008
  • Congenital hypertonia   206588008
  • Congenital hypogonadotropic hypogonadism   722944006
  • Congenital hypothyroidism   190268003
  • Congenital ichthyosiform erythroderma   254156001
  • Congenital immunodeficiency disease   36138009
  • Congenital infectious disease   82353009
  • Congenital instability of hip joint   271015004
  • Congenital internal torsion of tibia of left lower limb   15715401000119107
  • Congenital internal torsion of tibia of right lower limb   15715361000119103
  • Congenital ischemic atrophy of central nervous system structure   31076000
  • Congenital keratoderma   6874009
  • Congenital kyphoscoliosis   405772002
  • Congenital kyphosis   71311003
  • Congenital lactase deficiency   5388008
  • Congenital laryngeal abductor palsy   232442001
  • Congenital laryngeal adductor palsy   232443006
  • Congenital laryngeal cyst   765763007
  • Congenital leptin deficiency   700150001
  • Congenital leptomeningeal angiomatosis   79801002
  • Congenital lethal erythroderma   722391005
  • Congenital long QT syndrome   442917000
  • Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells   722392003
  • Congenital malalignment of the toenails   403282000
  • Congenital male infertility   236790005
  • Congenital malformation   276654001
  • Congenital malformation of left external ear   457051000124105
  • Congenital malformation of left inner ear   15984711000119109
  • Congenital malformation of left middle ear   15979271000119100
  • Congenital malformation of right external ear   457061000124107
  • Congenital malformation of right inner ear   15984671000119105
  • Congenital malformation of right middle ear   15979191000119107
  • Congenital malignant melanoma   402559007
  • Congenital malposition of eyelid   726406009
  • Congenital malposition of tongue   1085631000119103
  • Congenital megaprepuce   452771000124100
  • Congenital melanosis   86042009
  • Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization   725592009
  • Congenital methemoglobinemia   267550008
  • Congenital microvillous atrophy   235729009
  • Congenital misshapen left external ear   15984351000119109
  • Congenital misshapen right external ear   15984311000119108
  • Congenital monosaccharide malabsorption   450849003
  • Congenital myasthenic syndrome   230672006
  • Congenital mydriasis   400963000
  • Congenital myotonic dystrophy   240104008
  • Congenital nasolacrimal duct obstruction   193994000
  • Congenital nephritis   276585000
  • Congenital nephrotic syndrome due to congenital infection   722118005
  • Congenital nephrotic syndrome due to diffuse mesangial sclerosis   722369003
  • Congenital nephrotic syndrome with focal glomerulosclerosis   236384008
  • Congenital neurogenic ileus syndrome   129601002
  • Congenital neutrophil actin dysfunction   40145002
  • Congenital non-progressive ataxia   278509004
  • Congenital nystagmus   64635004
  • Congenital obstruction of aqueduct of Sylvius   67876003
  • Congenital obstruction of bile duct   51038004
  • Congenital obstruction of bladder neck   46284005
  • Congenital obstruction of lacrimal canal   95508001
  • Congenital obstruction of large intestine   57265009
  • Congenital obstruction of urethra   48980001
  • Congenital occlusion of ureter   16619007
  • Congenital osteodystrophy   5731000119108
  • Congenital palato-esophageal incoordination   253758001
  • Congenital pancreatic trypsin deficiency   54119007
  • Congenital paraplegia   192949002
  • Congenital pelviureteric junction obstruction   373584008
  • Congenital pes cavus   205091006
  • Congenital pes planus   23407003
  • Congenital plasminogen activator inhibitor deficiency type 1   717407006
  • Congenital plicated tongue   204631004
  • Congenital pneumonia   78895009
  • Congenital porphyria   190913009
  • Congenital positional talipes   395693008
  • Congenital primary adrenocortical hypofunction   12427005
  • Congenital pseudobulbar palsy   230784003
  • Congenital pseudoporencephaly   48376004
  • Congenital pseudostrabismus   348971000119105
  • Congenital pterygium of nail   403283005
  • Congenital pulmonary alveolar proteinosis   707442002
  • Congenital pyloric spasm   204670005
  • Congenital quadriplegia   275468009
  • Congenital rearfoot varus   229846002
  • Congenital rectal fissure   1085681000119102
  • Congenital renal atrophy   204941003
  • Congenital renal cyst   369071000119105
  • Congenital retinoschisis   95493003
  • Congenital retroversion of left femur   453361000124103
  • Congenital retroversion of right femur   15669841000119100
  • Congenital sacral meningocele   95478002
  • Congenital scoliosis due to bony malformation   205045003
  • Congenital secretory diarrhea   25898005
  • Congenital sensory neuropathy with selective loss of small myelinated fibers   128206006
  • Congenital sequelae of disorders   363042006
  • Congenital sixth nerve palsy   400945000
  • Congenital spastic foot   230779009
  • Congenital stenosis   702670001  removed: 2019-07-31
  • Congenital stenosis of eustachian tube   204252002
  • Congenital stenosis of external auditory canal   361265002
  • Congenital stenosis of intestinal tract   93386004
  • Congenital stenosis of large intestine   737197004
  • Congenital stenosis of nasal pyriform aperture   702644002
  • Congenital syringomyelia   371076006
  • Congenital talipes calcaneovalgus   205083002
  • Congenital talipes calcaneus   231250005
  • Congenital talipes equinus   205097005
  • Congenital thrombocytopenia   737221003
  • Congenital tremor syndrome   59704003  removed: 2014-01-31
  • Congenital trigeminal anesthesia   763218005
  • Congenital uremia   276627004
  • Congenital ureterovesical obstruction   373585009
  • Congenital varus deformity of foot   42162004
  • Congenital velopharyngeal dysfunction   700285006
  • Congenital vertical talus   205082007
  • Congenital viral hepatitis   206372007
  • Congenital vocal cord palsy   232441008
  • Congenital volvulus of stomach   84974003
  • Congenital von Willebrand's disease   234446004
  • Congenital/genetic syndrome with poikiloderma   402769003  removed: 2020-01-31
  • Congenital/hereditary angiokeratoma   402838005  removed: 2014-07-31
  • Congenital/hereditary hypermelanotic disorder   402609009  removed: 2020-01-31
  • Congenital/hereditary lentiginosis   402806000  removed: 2018-07-31
  • Defect of purinergic receptor p2y G protein-coupled 12   725291001
  • Dental arch length loss secondary to congenitally missing teeth   109653001  removed: 2020-01-31
  • Diffuse palmoplantar keratoderma and acrocyanosis syndrome   721096008
  • Double orifice of right atrioventricular valve in double inlet ventricle   449111002
  • Dysmorphological structure   277370002  removed: 2014-07-31
  • Dysraphism of cervical spine   200021000119109
  • Dystopia canthorum   726407000
  • Ectopic bone tissue, congenital   26155004
  • Erythema palmare hereditarium   763767006
  • Extensive congenital erosions, vesicles and reticulate scarring   238851009
  • Familial congenital mirror movements   784348007
  • Familial congenital palsy of trochlear nerve   782679002
  • Familial focal epilepsy with variable foci   764522009
  • Familial nasal acilia   763532008
  • Fetal congenital tumor causing disproportion   23695007
  • Fetal intrauterine intestinal perforation with congenital stenosis of intestinal tract   762272006
  • Focal palmoplantar and gingival keratoderma   764963007
  • Frontal bossing   90145001
  • Fundus albipunctatus   764939004
  • Gelatinous atrioventricular valve leaflet in atrioventricular septal defect   448626007
  • Generalized congenital intestinal dysmotility   253785008
  • Generalized glucocorticoid resistance syndrome   819950002
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1   764962002
  • Hereditary anetoderma   733467001
  • Hereditary disorder of endocrine system   363104002
  • Hereditary factor IX deficiency disease   41788008
  • Hereditary factor XI deficiency disease   49762007
  • Hereditary hemoglobinopathy   427306008
  • Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency   783250007
  • Hutch diverticulum   431771000124109
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency   764456001
  • Hypermethioninemia due to deficiency of glycine N-methyltransferase   763720007
  • Hypermethioninemia encephalopathy due to deficiency of adenosine kinase   763721006
  • Impacted teeth with abnormal position   9226004  removed: 2020-01-31
  • Inborn error of metabolism   86095007
  • Inherited congenital spastic tetraplegia   782887003
  • Integument anomalies NOS   268291009  removed: 2010-01-31
  • Intestinal epithelial dysplasia   715669000
  • Keratosis pilaris with ichthyosis and deafness   239061008
  • Leber's amaurosis   193413001
  • Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet   448026008
  • Left congenital clinodactyly   15671841000119108
  • Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome   735421004
  • Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome   764095005
  • Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome   763366000
  • Longitudinal deficiency of limb   67341007
  • Longitudinal deficiency of part of limb   716638009
  • Macrodactyly of toe of left foot   15671721000119108
  • Macrodactyly of toe of right foot   15671681000119102
  • Median nodule of upper lip   722034006
  • Metabolic myopathy due to lactate transporter defect   766715000
  • Metachromatic leukodystrophy, congenital type   40802007
  • Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency   765137006
  • Monster NOS   205785001  removed: 2010-01-31
  • Mottled teeth, congenital   84752003
  • Multiple supernumerary teeth unrelated to systemic condition   109455001
  • Muscle filaminopathy   764992006
  • Myelocele   82058009
  • Myopathy with hexagonally cross-linked tubular arrays   764994007
  • Myosclerosis   763895001
  • Myostatin related hypertrophy of muscle   699185005
  • Myotonia congenita   726051002
  • Neonatal intestinal perforation with congenital intestinal stenosis   735720002
  • Nephrogenic syndrome of inappropriate antidiuresis   723440000
  • Nonfenestrated interatrial communication within oval fossa   447933008
  • Obstructed pulmonary venous connection at coronary sinus orifice   446890001
  • Occipital meningocele   445468002
  • Other and unspecified congenital anomalies   205730000  removed: 2010-01-31
  • Other congenital anomalies   268353007  removed: 2010-01-31
  • Other specified face and neck anomalies   204282008  removed: 2010-01-31
  • Other specified integument anomaly   205609000  removed: 2010-01-31
  • Other specified nonteratogenic anomalies   205100000  removed: 2010-01-31
  • OTULIN-related autoinflammatory syndrome   765435009
  • Pacman dysplasia   722127006
  • Palmoplantar keratoderma Nagashima type   722205008
  • Parachute malformation of common atrioventricular valve   253450009
  • Parachute malformation of left atrioventricular valve   253507001
  • Parachute malformation of right atrioventricular valve   253479002
  • Partial defect of ulna   205180002
  • Pericellular fibrosis of congenital syphilis   235898000
  • Pigmented paravenous retinochoroidal atrophy   723450004
  • Placenta previa centralis   15663008
  • Platelet storage pool defect   128099001
  • Platelet type pseudo-von Willebrand disease   270117002
  • Polydactyly of fingers of left hand   15666441000119105
  • Polydactyly of fingers of right hand   15666361000119104
  • Polydactyly of toes of left foot   15666161000119102
  • Polydactyly of toes of right foot   15666121000119107
  • PPM-X syndrome   702356009
  • Primary refluxing megaureter   431981000124109
  • Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009
  • Progressive supranuclear palsy   192976002
  • Pulmonary valve overriding ventricular septum   448413002
  • Pulmonic stenosis and congenital nephrosis   236530006
  • Pure mitochondrial myopathy   732245008
  • Redundant prepuce   39526006
  • Regional congenital anomaly   105994001
  • Reticulate acropigmentation of Kitamura   239133004
  • Right atrial appendage absent   253345004
  • Right congenital clinodactyly   15671881000119103
  • Right inferior caval vein connecting to left atrium and right atrium   448326002
  • Right inferior caval vein connecting to left sided atrium   448631009
  • Right ventricular myocardial sinusoids   448825008  removed: 2019-07-31
  • Rolandic epilepsy, speech dyspraxia syndrome   765093009
  • Rotation of tooth   38089000
  • Short stature locking fingers syndrome   726734001
  • Skin damage resulting from congenital/hereditary neuropathy   402741006  removed: 2020-01-31
  • Spectrin-associated autosomal recessive cerebellar ataxia   763351003
  • Spheroid body myopathy   765092004
  • Spinal meningocele   203978005  removed: 2015-01-31
  • Spleen in right sided position   448602005
  • Stomach in right sided position   448495008
  • Striate palmoplantar keratoderma   764958008
  • Systemic venovenous collateral vein   448872008
  • Tarsal coalition of left foot   15666001000119102
  • Tarsal coalition of right foot   15665961000119105
  • Tricuspid but functionally bicuspid aortic valve   449116007
  • Tricuspid valve primary chords absent   447261009
  • Trifoliate left atrioventricular valve   447779007
  • True cleft of common atrioventricular valve leaflet   253439006
  • Truncal valve overriding ventricular septum   449037002
  • Unspecified anomaly of connective tissue   205540004  removed: 2010-01-31
  • Vitamin D-dependent rickets, type 1   67049004
  • Vitamin D-dependent rickets, type 2   72831007
  • X-linked endothelial corneal dystrophy   718579008
  • X-linked hereditary motor and sensory neuropathy   230552007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009

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