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-hydroxyglutaric aciduria   698870008
  • [X]Additional congenital disease classification terms   205844000  removed: 2009-01-31
  • [X]Other specified congenital malformations of integument   205980001  removed: 2009-01-31
  • 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 hyperinsulinism due to SUR1 deficiency   717046003
  • Autosomal dominant keratitis   715339004
  • Autosomal dominant secondary polycythemia   783202008
  • Autosomal dominant sideroblastic anemia   1148914007
  • Autosomal dominant slowed nerve conduction velocity   764854006
  • Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome   763312008
  • Autosomal recessive hyperinsulinism due to Kir6.2 deficiency   783768006
  • Autosomal recessive hyperinsulinism due to SUR1 deficiency   783767001
  • Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene   783766005
  • Autosomal recessive sideroblastic anemia   717050005
  • Benign congenital hypotonia   240080003
  • Biallelic RPE65 mutation associated retinal dystrophy   764969006
  • Biermer's congenital pernicious anemia   234362006
  • Biotin-thiamine-responsive basal ganglia disease   703522009
  • 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
  • Combined pituitary hormone deficiency genetic form   718182008
  • 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 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 analbuminemia   718721006
  • Congenital anemia   63565007
  • Congenital anomaly   443341004  removed: 2014-07-31
  • 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 axonal neuropathy with encephalopathy   1237626001
  • Congenital blocked tear duct of left eye   15630451000119101
  • Congenital blocked tear duct of right eye   15630491000119106
  • 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 chondrolysis   1153394005
  • Congenital chromosomal disease   74345006
  • Congenital chronic diarrhea with protein-losing enteropathy   773579007
  • Congenital coloboma of iris of left eye   15665761000119107
  • Congenital coloboma of iris of right eye   15665681000119108
  • Congenital color blindness   232148006
  • Congenital connective tissue disorder   363039000
  • Congenital contracture of left gastrocnemius muscle   15670321000119101
  • Congenital contracture of right gastrocnemius muscle   15670281000119106
  • Congenital cutaneous angiomatosis   73716000
  • Congenital cyst of fallopian tube   93048002  removed: 2018-07-31
  • Congenital cyst of vulva   31339007
  • Congenital dacryocele   726334003
  • Congenital deficiency of alpha-fetoprotein   716698007
  • Congenital deficiency of intrinsic factor   234361004
  • Congenital diffuse lipomatosis   238904008
  • 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 epignathus   897277000
  • Congenital facial asymmetry   13851000119109
  • Congenital failure of eye elevation   230529008
  • Congenital fecaliths causing obstruction   206529002
  • Congenital fibrinogen abnormality   234456000
  • Congenital folate malabsorption anemia   191146005
  • Congenital functional disorders of the colon   253778009
  • Congenital functional disorders of the small intestine   253767001
  • Congenital genu recurvatum of right knee   15671121000119107
  • Congenital glaucoma   204113001
  • Congenital hamartoma   399960008
  • Congenital hamartosis   75523000  removed: 2014-07-31
  • Congenital hearing disorder   95827002
  • Congenital hernia of bladder   205022009
  • Congenital horizontal gaze palsy   1217622009
  • Congenital Horner syndrome   770626007
  • Congenital hypertonia   206588008
  • Congenital hypogonadotropic hypogonadism   722944006
  • Congenital hypothyroidism   190268003
  • Congenital ichthyosiform erythroderma   254156001
  • Congenital immunodeficiency disease   36138009
  • Congenital infection caused by Lymphocytic choriomeningitis virus   1163118004
  • Congenital infectious disease   82353009
  • Congenital insensitivity to pain with severe intellectual disability   1237623009
  • Congenital instability of hip joint   271015004
  • Congenital ischemic atrophy of central nervous system structure   31076000
  • Congenital isolated adrenocorticotropic hormone deficiency   1231283007
  • Congenital keratoderma   6874009
  • Congenital kyphosis of cervical spine   305111000119100
  • Congenital lactase deficiency   5388008
  • Congenital laryngeal abductor palsy   232442001
  • Congenital laryngeal adductor palsy   232443006
  • Congenital laryngeal cyst   765763007
  • Congenital leptomeningeal angiomatosis   79801002
  • Congenital lethal erythroderma   722391005
  • Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells   722392003
  • Congenital male infertility   236790005
  • Congenital malformation   276654001
  • Congenital malignant melanoma   402559007
  • Congenital malposition of tongue   1085631000119103
  • Congenital megaprepuce   452771000124100
  • Congenital melanosis   86042009
  • Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization   725592009
  • Congenital meningocele   172069000
  • Congenital methemoglobinemia   267550008
  • Congenital misshapen left external ear   15984351000119109
  • Congenital misshapen right external ear   15984311000119108
  • Congenital monocular elevator palsy   1217640008
  • Congenital monosaccharide malabsorption   450849003
  • Congenital myasthenic syndrome   230672006
  • Congenital nasopharyngeal teratoma   1003468008
  • 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 neutrophil actin dysfunction   40145002
  • Congenital non-progressive ataxia   278509004
  • Congenital nystagmus   64635004
  • Congenital oculomotor nerve palsy   1217207008
  • Congenital osteodystrophy   5731000119108
  • Congenital palato-esophageal incoordination   253758001
  • Congenital pancreatic trypsin deficiency   54119007
  • Congenital paraplegia   192949002
  • Congenital pes planus of left foot   15630371000119103
  • Congenital pigmented melanocytic nevus   398696001
  • Congenital plasminogen activator inhibitor deficiency type 1   717407006
  • Congenital pneumonia   78895009
  • Congenital porphyria   190913009
  • Congenital primary adrenocortical hypofunction   12427005
  • Congenital pseudobulbar palsy   230784003
  • Congenital pseudopapilledema   1231686007
  • Congenital pseudoporencephaly   48376004
  • Congenital pseudostrabismus   348971000119105
  • Congenital pulmonary alveolar proteinosis   707442002
  • Congenital pyloric spasm   204670005
  • Congenital quadriplegia   275468009
  • Congenital renal atrophy   204941003
  • Congenital renal cyst   369071000119105
  • Congenital retroversion of left femur   453361000124103
  • Congenital retroversion of right femur   15669841000119100
  • 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 talipes equinovarus   1156475005
  • Congenital thrombocytopenia   737221003
  • Congenital tremor syndrome   59704003  removed: 2014-01-31
  • Congenital trigeminal anesthesia   763218005
  • Congenital trochlear nerve palsy   1204418008
  • Congenital uremia   276627004
  • Congenital velopharyngeal dysfunction   700285006
  • Congenital vocal cord palsy   232441008
  • 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
  • Developmental and/or congenital abnormality of nail   402625004  removed: 2021-07-31
  • Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency   783741006
  • Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency   783740007
  • Double orifice of right atrioventricular valve in double inlet ventricle   449111002
  • Dysmorphological structure   277370002  removed: 2014-07-31
  • Dysraphism of cervical spine   200021000119109
  • Ectopic bone tissue, congenital   26155004
  • Encephalocraniocutaneous lipomatosis   238905009
  • Erythema palmare hereditarium   763767006
  • Extensive congenital erosions, vesicles and reticulate scarring   238851009
  • Familial congenital mirror movements   784348007
  • Familial focal epilepsy with variable foci   764522009
  • Familial nasal acilia   763532008
  • Fetal congenital tumor causing disproportion   23695007  removed: 2021-01-31
  • Fibrous dysplasia of bone   10623005
  • Fundus albipunctatus   764939004
  • Generalized congenital intestinal dysmotility   253785008
  • Generalized glucocorticoid resistance syndrome   819950002
  • Growth delay due to insulin-like growth factor type 1 deficiency   724385009
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1   764962002
  • Hereditary adrenal unresponsiveness to corticotropin   71974009
  • Hereditary anetoderma   733467001
  • Hereditary congenital prekallikrein deficiency   1162804003
  • Hereditary factor IX deficiency disease   41788008
  • Hereditary factor XI deficiency disease   49762007
  • Hereditary hemoglobinopathy   427306008
  • Hereditary nephrogenic diabetes insipidus   61165007
  • Hereditary systemic amyloidosis   107311000119104
  • Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency   783250007
  • Heterozygous methylenetetrahydrofolate reductase mutation   139821000119102
  • Homozygous methylenetetrahydrofolate reductase mutation   139811000119109
  • Hutch diverticulum   431771000124109
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency   764456001
  • Hyperinsulinism and hyperammonemia syndrome   718106009
  • Hyperinsulinism due to deficiency of glucokinase   717182006
  • Hyperinsulinism due to HNF1A deficiency   721234004
  • Hyperinsulinism due to HNF4A deficiency   717048002
  • Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency   721236002
  • Hyperinsulinism due to uncoupling protein 2 deficiency   721834007
  • Hypermethioninemia due to deficiency of glycine N-methyltransferase   763720007
  • Hypermethioninemia encephalopathy due to deficiency of adenosine kinase   763721006
  • Hypomagnesemia with secondary hypocalcemia   711151004
  • Impacted teeth with abnormal position   9226004  removed: 2020-01-31
  • Inborn error of metabolism   86095007
  • Infantile myofibromatosis   254146000
  • Inherited congenital spastic tetraplegia   782887003
  • Integument anomalies NOS   268291009  removed: 2010-01-31
  • Isolated congenital horizontal gaze paresis   1217643005
  • Isolated follicle stimulating hormone deficiency   758664007
  • Isolated generalized anhidrosis with normal sweat glands   1187178004
  • Keratosis pilaris with ichthyosis and deafness   239061008  removed: 2020-07-31
  • Leber's amaurosis   193413001
  • Left congenital clinodactyly   15671841000119108
  • Legius syndrome   703541007
  • Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome   735421004
  • Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome   763366000
  • Lipoma due to neurospinal dysraphism   1003434002
  • Longitudinal deficiency of left femur   313261000119109
  • 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
  • Misplaced bilateral ears   15983311000119105
  • Monster NOS   205785001  removed: 2010-01-31
  • Mottled teeth, congenital   84752003
  • Muscle filaminopathy   764992006
  • Myopathy with hexagonally cross-linked tubular arrays   764994007
  • Myosclerosis   763895001
  • Myotonia congenita   726051002
  • Natal tooth   21995002
  • Nemaline myopathy, early onset type   129621001
  • Nephrogenic syndrome of inappropriate antidiuresis   723440000
  • Neurocutaneous syndrome   78572006
  • Non-syndromic mitochondrial sensorineural deafness   1187512003
  • 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
  • Pacman dysplasia   722127006
  • Pigmented paravenous retinochoroidal atrophy   723450004
  • Platelet storage pool defect   128099001
  • 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
  • Progressive external ophthalmoplegia, myopathy, emaciation syndrome   764733009
  • Pure mitochondrial myopathy   732245008
  • Pyridoxal 5-phosphate dependent epilepsy   724576005
  • Regional congenital anomaly   105994001  removed: 2022-06-30
  • Reticulate acropigmentation of Kitamura   239133004
  • Retinal hemangioblastomatosis   2167004
  • Right congenital clinodactyly   15671881000119103
  • Right ventricular myocardial sinusoids   448825008  removed: 2019-07-31
  • Rolandic epilepsy, speech dyspraxia syndrome   765093009
  • Segmental lymphangiomatosis   403547002
  • 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 hydromeningocele   203967002  removed: 2021-07-31
  • Spinal meningocele   203978005  removed: 2015-01-31
  • Syndromic X-linked intellectual disability type 7   719160009
  • Systemic lymphangiomatosis   238804007
  • Systemic venovenous collateral vein   448872008
  • Tarsal coalition of left foot   15666001000119102
  • Tarsal coalition of right foot   15665961000119105
  • Tricuspid but functionally bicuspid aortic valve   449116007
  • 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 corneal dermoid   715426004
  • X-linked endothelial corneal dystrophy   718579008
  • X-linked hereditary motor and sensory neuropathy   230552007
  • X-linked intellectual disability Van Esch type   718914002
  • X-linked neurodegenerative syndrome Bertini type   718849008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009

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