NAPKON-PEDIATRICS\Congenital Diseases

NAPKON Pediatrics Module - Local Development build (v1.0.0). See the Directory of published versions

ValueSet: Congenital Diseases

Summary

Defining URL:

https://www.napkon.de/fhir/ValueSet/congenital-diseases

Version:

1.0.0

Name:

CongenitalDiseases

Title:

Congenital Diseases

Status:

Active as of 2021-11-17

Definition:

Congenital diseases

Publisher:

Charité - Universitätsmedizin Berlin

Source Resource:

XML / JSON / Turtle

References

Congenital Disease

Logical Definition (CLD)

Include codes from http://snomed.info/sct where concept is-a 66091009 (Congenital disease)

Expansion

This value set has >1000 codes in it. In order to keep the publication size manageable, only a selection (1000 codes) of the whole set of codes is shown

Expansion based on SNOMED CT International edition 31-Jul 2021

All codes in this table are from the system http://snomed.info/sct

Code	Display	Definition
66091009	Congenital disease
192008	Congenital syphilitic hepatomegaly
290006	Melnick-Fraser syndrome
378007	Morquio syndrome
407000	Congenital hepatomegaly
440009	Persistent hyperphenylalaninemia
520004	Congenital bent nose
548004	13p partial trisomy syndrome
554003	2p partial trisomy syndrome
590005	Congenital aneurysm of anterior communicating artery
613003	Fragile X syndrome
703000	Congenital adhesions of tongue
734001	Opocephalus
827006	Late congenital syphilis, latent (+ sero., - C.S.F., 2 years OR more)
841002	Congenital absence of skull bone
934007	Thalassemia intermedia
943003	Congenital retinal aneurysm
975000	Anorectal agenesis
1051005	Hyperplasia of islet alpha cells with gastrin excess
1131009	Congenital valvular insufficiency
1150009	Congenital microcheilia
1232006	Congenital articular rigidity with myopathy
1239002	Congenital anteversion of femur
1271009	Knuckle pads, deafness AND leukonychia syndrome
1280009	Isologous chimera
1287007	Congenital absence of bile duct
1372004	Uterus unicornis
1393001	Lenz-Majewski hyperostosis syndrome
1418007	Hypoplastic chondrodystrophy
1479009	20q partial trisomy (disorder)
1492007	Congenital anomaly of large intestine
1512006	Congenital stricture of bile duct
1519002	Congenital phlebectasia
1538006	Central nervous system malformation in fetus affecting obstetrical care
1542009	Omphalocele with obstruction
1694004	Accessory lobe of lung
1769008	Thoracodidymus
1779005	Mohr syndrome
1856001	Accessory nose
1857005	Gestational rubella syndrome
1896004	Ectopic breast tissue
1908008	von Willebrand disease, type IIC
1922008	Congenital absence of urethra
1926006	Osteopetrosis
1953005	Congenital deficiency of pigment of skin
1955003	Preauricular dimple
1967001	Longitudinal absence of radius AND ulna
2107001	Anisomelia
2167004	Retinal hemangioblastomatosis
2213002	Congenital anomaly of vena cava
2229005	Chimera
2241003	X-linked absence of thyroxine-binding globulin
2355008	Rud's syndrome
2391001	Achondrogenesis
2438005	Iniencephaly
2495006	Congenital cerebral arteriovenous aneurysm
2534005	Congenital absence of vena cava
2560006	Syndactyly of fingers with fusion of bones
2583009	Chiari's network
2593002	Dubowitz's syndrome
2625009	Senter syndrome
2689001	Dominant dystrophic epidermolysis bullosa with absence of skin
2749000	Congenital deformity of hip joint
2818004	Congenital vascular anomaly of eye
2828008	Congenital stenosis of nares
2829000	Uhl's disease
2884008	Weill-Marchesani syndrome
2893009	Anomaly of chromosome pair 10
2965006	Congenital alopecia
3004001	Congenital dilatation of esophagus
3073006	Ruvalcaba syndrome
3439009	SCID due to absent peripheral T cell maturation
3650004	Congenital absence of liver
3680009	Monocephalus tripus dibrachius
3699000	Transverse deficiency of upper limb
3705009	Congenital anomaly of anterior chamber of eye
3733009	Congenital eventration of right crus of diaphragm
3845008	Congenital duplication of intestine
3886001	Congenital fecaliths
3987009	Congenital absence of trachea
4041005	Congenital anomaly of macula
4107000	Infertile male syndrome
4135001	11p partial monosomy syndrome
4136000	Macrodactyly of toe (disorder)
4160001	Congenital anomaly of upper respiratory system
4170004	Ehlers-Danlos syndrome, procollagen proteinase resistant
4184009	Congenital anomaly of endocrine gland
4195003	Congenital duplication of anus
4199009	18p partial trisomy syndrome
4242009	18q partial monosomy syndrome
4313003	Acardiacus anceps
4325000	11q partial monosomy syndrome
4359001	Early congenital syphilis (less than 2 years)
4374004	Congenital anomaly of tricuspid valve
4397001	Partial congenital duodenal obstruction
4406004	Congenital anomaly of male genital system
4434006	Bloom syndrome
4465002	Spherophakia
4495005	Congenital hypertrophy of ureteric valve
4530000	Madelung's deformity
4602007	Robin sequence
4667004	Female infertility due to structural congenital anomaly of vagina
4702003	Inherited disorder of folate metabolism
4711003	Congenital anomaly of bile ducts
4749004	Naso-palatine duct cyst
4874006	11q partial trisomy syndrome
4887000	Hypertyrosinemia, Richner-Hanhart type
4920001	Acetyl-CoA: carboxylase deficiency
4945003	Microgyria
5051002	Anomaly of chromosome pair 9
5087009	Brachypellic pelvis
5102002	Agenesis of corpus callosum
5153001	Ectopic anus
5187006	Prune belly syndrome
5230009	Congenital absence of coronary artery
5286009	Congenital absence of vas deferens
5300004	Hemoglobin Bart's hydrops syndrome
5335002	Phosphoenolpyruvate carboxykinase (GTP) deficiency
5361003	Embryonal nuclear cataract
5364006	Uterus subseptus
5388008	Congenital lactase deficiency
5397007	Congenital anomaly of renal pelvis
5432003	Transposition of appendix
5565008	Congenital diverticulum of trachea
5601008	Klippel-Feil sequence
5619004	Bardet-Biedl syndrome
5645008	Nasal glial heterotopia
5655007	Inherited disorder of bilirubin metabolism
5667009	Hunter's syndrome, mild form
5842009	Spinal cord dysplasia
5963005	Subacute neuronopathic Gaucher's disease
5967006	A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis
5968001	Congenital fusion of sacroiliac joint
5982001	2q partial trisomy syndrome
5994005	Hereditary elliptocytosis due to deficiency of protein 4.1
6002006	10p partial monosomy syndrome
6075009	Glycogen storage disease, hepatic form
6267005	Congenital syphilitic meningitis
6282000	Congenital anomaly of vas deferens
6296006	Congenital dilatation of trachea
6380005	Inverted pelvis
6477005	Malrotation of colon
6479008	Partial albinism
6483008	Tyrosinase-negative oculocutaneous albinism
6537000	Ectopic pituitary tissue
6573007	Reniform pelvis
6636004	Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium
6667002	Anadidymus
6688006	Congenital absence of patella
6724001	Ectopic pancreas in duodenum
6729006	Cerebral-retinal arteriovenous aneurysm
6839008	VACTEL syndrome
6874009	Congenital keratoderma
6936002	Cleft lip sequence
6996004	Congenital absence of pulmonary valve
7037003	XTE syndrome
7134007	Osteogenesis imperfecta, dominant perinatal lethal
7169009	Congenital supravalvular aortic stenosis
7183006	Anophthalmos
7199000	Tuberous sclerosis syndrome
7259005	Mucopolysaccharidosis, MPS-IV-A
7265005	Glycogen storage disease, type I
7266006	Total placenta previa with intrapartum hemorrhage
7305005	Coarctation of aorta
7322007	Accessory adrenal cortex
7368005	Double outlet left ventricle
7391009	Hemoglobin D trait
7438000	Congenital atresia of aorta
7458004	Diplopodia
7481002	Congenital atresia of epiglottis
7484005	Double outlet right ventricle
7522008	Persistent tuberculum impar
7530009	Asexual dwarfism
7573000	Classical phenylketonuria
7586009	14q partial trisomy (disorder)
7589002	Brachymegalodactyly
7601009	Double urinary meatus
7603007	Platyspondylia
7611002	Septo-optic dysplasia sequence
7720002	Metaphyseal chondrodysplasia, McKusick type
7722005	Thoracopagus epigastricus
7727004	Absence of head AND spinal column
7731005	Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
7762009	Paraspadias
7763004	Dicephalus dipus tribrachius
7810004	Glycoprotein storage disorder
7903009	Hallermann-Streiff syndrome
7921007	Congenital deformity of clavicle
7964000	Congenital listeriosis
8032007	Congenital anomaly of thyroid cartilage
8234004	XY females
8301004	Caudal dysplasia sequence
8447006	Congenital anomaly of skeletal bone
8569001	Syncephalus
8587003	Congenital diverticulum of colon
8634009	Distichiasis-lymphedema syndrome
8649001	Congenital anomaly of thoracic cage
8654005	Ectodermal dysplasia
8712002	Congenital subaortic stenosis of membranous type
8757006	Hecht syndrome
8793008	Rokitansky sequence
8800006	Female pseudohermaphroditism
8808004	Biotinidase deficiency
8851000	Nagele's pelvis
8857001	Hereditary elliptocytosis due to alpha spectrin defect
8868001	Dyshormonogenetic goiter AND iodide leak
8915006	Congenital hypoplasia of breast
8933000	Crigler-Najjar syndrome, type I
8962004	Katadidymus
8986002	Transposition of colon
9147009	Osteopoikilosis
9245008	Dentigerous cyst
9252005	Congenital bowing of tibia AND fibula
9297001	Uterus bicornis affecting pregnancy
9311003	Hermansky-Pudlak syndrome
9417000	Nucleotide storage pool disorder
9527009	Tetrasomy 12p
9537004	GM>2< gangliosidosis, type 3
9634000	Congenital dislocation of radial head
9660004	Congenital stenosis of trachea
9723006	Hyperphosphatasemia with bone disease
9740002	Macroencephaly
9839007	Anomaly of chromosome pair 20
9904008	Congenital anomaly of cardiovascular system
9918001	Floating kidney
9941009	Congenital syphilitic choroiditis
9989000	Congenital anomaly of toe
10007009	Coffin-Siris syndrome
10033001	Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
10078003	Turner's tooth
10155006	Bilateral congenital dislocation of hip
10170007	Black locks, oculocutaneous albinism, AND deafness of the sensorineural type
10177005	Triploidy, diploidy, mixoploidy syndrome
10283004	Congenital stenosis of cervical canal
10362008	Accessory spleen
10375008	Extrapulmonary subpleural pulmonary sequestration
10451007	Double aortic arch
10567003	Four X syndrome
10572007	13q partial trisomy syndrome
10623005	Fibrous dysplasia of bone
10631000	Trilobed left lung
10653003	Congenital mandibular hyperplasia
10741005	Lipid storage disease
10818008	Congenital malposition of heart
10866001	Congenital pancreatic enterokinase deficiency
10883005	Gingival cyst of adult
10930001	Congenital atresia of pulmonary artery
11102005	Congenital fistula of lip
11144004	Congenital stricture of osseous meatus of middle ear
11160000	Brown oculocutaneous albinism
11179002	Glycogen storage disease, type IV
11194003	Congenital anomaly of anus
11197005	Hydromyelia
11223009	Congenital anomaly of pharynx
11378000	Persistent urogenital sinus
11380006	Mucopolysaccharidosis
11433004	Congenital coronary artery fistula
11552008	Complete congenital duodenal obstruction
11614003	Congenital stenosis of pulmonary veins
11646003	Congenital inversion of nipple
11701009	Hemicephaly
11731003	Congenital webbing of neck
12017008	Congenital absence of ovary
12070002	Congenital stenosis of larynx
12075007	Congenital hypoplasia of ascending aorta
12104008	Congenital rectocloacal fistula
12252009	Congenital absence of sternum
12316007	Persistent fetal uterus
12322003	Congenital eventration of left crus of diaphragm
12427005	Congenital primary adrenocortical hypofunction
12458006	Congenital macrognathism
12501008	von Willebrand disease, type IIF
12674005	Multiple malformation syndrome with senile-like appearance
12721007	Trifid tongue
12770006	Cyanotic congenital heart disease
12897005	Congenital stricture of ureteropelvic junction
12907000	Thiamine-responsive megaloblastic anemia
13059002	Congenital ichthyosis of skin
13144005	Methylcrotonyl-CoA carboxylase deficiency
13213009	Congenital heart disease
13236000	Congenital spondylolisthesis
13262009	Synechia vulvae
13280000	Femoral hypoplasia - unusual facies syndrome
13282008	Congenital corneal opacity interfering with vision
13401001	Ablepharon
13449007	Melnick-Needles syndrome
13453009	Anomalous muscle bands of left ventricle
13499006	Congenital anomaly of lacrimal system
13530005	Congenital lobulation of kidney
13555004	Ring chromosome 22 syndrome
13568007	Congenital duplication of stomach
13624003	Congenital cleft hand
13630003	Congenital absence of lobe of liver
13671009	Congenital stricture of urethra
13674001	Anomaly of chromosome pair 3
13689005	Congenital anomaly of aortic valve
13806003	Congenital anomaly of urethra
13867009	Preductal coarctation of aorta
14061004	Derencephalus
14091009	12p partial trisomy syndrome
14178006	Double renal pelvis
14210003	Lipofuscinosis
14365001	Congenital prolapse of bladder
14430002	Congenital stenosis of small intestine
14447001	Dandy-Walker syndrome
14482000	Anomalous origin of right subclavian artery
14532008	Congenital anomaly of trachea
14552009	Vestigial remnants of canal of Cloquet
14582003	Microstomia
14637005	Late-infantile neuronal ceroid lipofuscinosis
14689000	Uterus cordiformis
14821001	Situs ambiguus
14870002	Achondrogenesis, type IB
14886009	Abdominal heart
14921002	Aarskog syndrome
15059000	Retinal dystrophy in systemic lipidosis
15069006	Russell-Silver syndrome
15080006	Myotubular myopathy with type I atrophy
15096009	Congenital insufficiency of pulmonary valve
15121005	Hereditary elliptocytosis due to glycophorin C deficiency
15135007	Congenital transposition of stomach
15182000	Coffin-Lowry syndrome
15191001	Origin of innominate artery from left side of aortic arch
15326009	beta^+^ Thalassemia, normal Hb A>2<, type 2
15346004	Familial hypoalphalipoproteinemia
15419008	Congenital pyloric membrane
15453007	Congenital dislocation of knee with genu recurvatum
15459006	Endocardial cushion defect
15545001	Congenital duplication of uterus
15552004	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
15557005	First arch syndrome
15582005	Congenital absence of lobe of lung
15663008	Placenta previa centralis
15671007	Encephalocele of orbit
15788006	Congenital cleft thyroid cartilage
15841002	21q partial monosomy syndrome
15843004	Congenital absence of vertebra
15890002	Albinism
15892005	Mucopolysaccharidosis, MPS-III-D
15969009	Desmiognathus
15978003	Glycogen storage disease, muscular form
15991002	Severe steroid 21-hydroxylase deficiency
16026008	Congenital cerebellar hypoplasia
16071000	Congenital generalized flexion contractures of lower limb joints
16095003	Heterodymus
16129004	10q partial monosomy (disorder)
16297002	Congenital hydronephrosis
16360009	Delta-beta thalassemia
16376000	Congenital duodenal stenosis
16402000	Sickle cell trait
16427007	Delta thalassemia
16507009	Ectopic kidney
16512005	Congenital absence of membranous labyrinth
16517004	Cerebral lipidosis
16567006	Mesocardia
16569009	Anomaly of chromosome pair 15
16585004	Congenital spade-like hand
16603000	Talipomanus
16619007	Congenital occlusion of ureter
16652001	Fabry's disease
16856000	Longitudinal deficiency of humerus
16904009	Incomplete congenital absence of thigh AND leg
16958000	Complete congenital absence of teeth
16964007	Hereditary persistence of fetal hemoglobin thalassemia
16972009	Congenital aneurysm of aorta
17024001	Aortic septal defect
17025000	Ehlers-Danlos syndrome, type 4
17122004	4p partial monosomy syndrome
17128000	Congenital eventration of diaphragm
17142008	Congenital absence of uterus
17144009	Fibrochondrogenesis
17170005	Pili torti
17190001	Congenital diaphragmatic hernia
17192009	Autosomal recessive asexual dwarfism
17234001	Allantoic cyst
17268007	Congenital clinodactyly
17337006	Double artery
17394001	Ebstein's anomaly with atrial septal defect
17422006	Ectopic thymic tissue
17471001	Polyorchism
17480001	Atresia of pupil
17484005	Sacralization of lumbar vertebra
17527002	Overriding skull bones
17568006	Sclerosteosis
17601009	Congenital subluxation of carpus
17604001	Bilateral right-sidedness sequence
17608003	Child syndrome
17718000	Ostium primum defect
17760001	Anomaly of chromosome pair 13
17808001	Azygos lobe of lung
17818006	Leri-Weill dyschondrosteosis
17827007	Cross syndrome
17885001	Iodotyrosine deiodination defect
17901006	Primary hyperoxaluria
18077009	Trichorhinophalangeal syndrome
18132009	Congenital deformity of sacroiliac joint
18166000	Accessory breast
18269002	Congenital duodenal obstruction
18273004	Unstable hemoglobin disease
18355000	Diastematocrania
18389004	Microcolon
18417009	Oligomeganephronic hypoplasia of kidney
18546004	Congenital stenosis of aortic valve
18620009	Congenital sequestration of lung
18735004	Congenital omphalocele
18749008	Congenital koilonychia
18756002	GM1 Gangliosidosis type II
18792003	H-type congenital tracheoesophageal fistula
18805001	Congenital secretory diarrhea, sodium type
18820007	Preauricular cyst
18821006	Dysplasia of eye
18822004	Centrofacial lentiginosis syndrome
18899000	Schinzel-Giedion syndrome
18910001	Cleft uvula
18927009	Niemann-Pick disease, type D
18978002	Ovotestis
19042000	Congenital prolapse of urethra
19092004	Holt-Oram syndrome
19109004	Syringomyelobulbia
19133005	Neurofibromatosis syndrome
19179000	Ischiopagus
19249002	Premature closure of foramen ovale
19276002	Congenital cerebral cyst
19290004	Clutton's joints
19387007	Ectopic pancreas
19416009	Congenital anomaly of eye
19419002	8p partial monosomy syndrome
19441002	Occipital dysplasia
19442009	Heterozygous thalassemia
19520006	von Willebrand disease, type IIB
19550003	22q partial monosomy (disorder)
19604005	Triglyceride storage disease with ichthyosis
19886006	Sturge-Weber sequence
20136007	Accessory carpal bones
20305008	Congenital myotonia, autosomal recessive form
20348002	14q partial distal trisomy syndrome
20392000	Congenital entropion
20491006	Calcaneonavicular bar
20510008	Torsion of accessory fallopian tube
20756002	Adult hypophosphatasia
20766005	Ehlers-Danlos syndrome, type 2
20815007	Exstrophy of cloaca sequence
20834007	Congenital cubitus varus
20852007	Romano-Ward syndrome
20900005	Nonfamilial asexual dwarfism
20919000	Congenital liver grooves
20944008	Congenital postural scoliosis
20948006	Congenital anomaly of finger
21086008	Cockayne syndrome
21111006	Complete trisomy 13 syndrome
21234008	Congenital stenosis of aorta
21279007	Lingual thyroid
21321009	Ambiguous genitalia
21346009	Double uterus affecting pregnancy
21367009	Autosomal dominant variant form of albumin
21412009	X chromosome-linked pyridoxine refractory sideroblastic anemia
21527007	Chronic granulomatous disease, type IV
21530000	Cephalothoracopagus
21565000	Accessory broad ligament
21590003	Congenital zonular cataract
21634003	Borjeson-Forssman-Lehmann syndrome
21764004	Renal carnitine transport defect
21877004	Osler hemorrhagic telangiectasia syndrome
21893008	Manus valga
21905007	Congenital anomaly of middle ear
21926007	Pili annulati
21981000	Single coronary artery
21995002	Natal tooth
21998000	Robert's pelvis
22006008	Orbital hypertelorism
22053006	Klinefelter syndrome
22062008	X-linked glutaric aciduria, type 2
22099008	Congenital valgus deformity of foot
22133005	Congenital anomaly of the peripheral nervous system
22138001	Congenital absence of ear lobe
22199006	Nail-patella syndrome
22406001	SCID due to absent lymphoid stem cells
22421007	Congenital absence of bladder
22471005	Hemispheric cerebellar agenesis
22497004	9q partial trisomy syndrome
22504001	Uterus bilocularis
22558005	Iodide transport defect
22567005	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
22589009	Congenital absence of salivary gland
22750001	Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava
22764001	Metatropic dysplasia group
22830006	Juvenile nephropathic cystinosis
22841008	Phocomelia
22845004	Congenital septation of gallbladder
22868008	Longitudinal deficiency of phalanges of hand
22886006	Glutaric aciduria, type 2
22933009	G-6-PD class I variant anemia
22935002	Congenital erythropoietic porphyria
23024003	Macrogyria
23061007	Congenital anomaly of cricoid cartilage
23063005	Congenital atresia of mitral valve
23150001	Proteus syndrome
23156007	Mild maple syrup urine disease
23238000	Common variable agammaglobulinemia
23269001	Double heterozygous sickling disorder
23359005	Multiple malformation syndrome with facial-limb defects as major feature
23371004	Epsilon gamma delta beta thalassemia
23402009	Congenital stricture of ureterovesical orifice
23407003	Congenital pes planus
23501004	Arginase deficiency
23512004	Atresia of salivary duct
23536000	Iodotyrosyl coupling defect
23544000	Congenital stenosis of vagina
23568008	Metatarsus adductus
23585005	Disorder of lysosomal enzyme
23610003	Anonychia
23678004	Congenital pyloric antral membrane
23686004	Ring chromosome 20 syndrome
23817003	Levy-Hollister syndrome
23849003	Sandhoff disease
23876003	Congenital dislocation of shoulder
23880008	Congenital anomaly of peripheral nerve
23914009	Ectopic splenic tissue
23939000	Imperfect fusion of skull
24140005	Median mandibular cyst
24194000	Complete bilateral cleft palate
24210004	Congenital chorioretinal degeneration
24269006	Distal arthrogryposis syndrome
24291004	Congenital dilatation of colon
24297000	Xiphopagus
24308003	Cystathionine beta-synthase deficiency
24358005	Accessory thymic tissue
24412005	Congenital secretory diarrhea, chloride type
24533004	Thoracodelphus
24559001	Mutilating keratoderma
24606006	Accessory eyelid
24614000	Laterality sequence
24629003	Metaphyseal chondrodysplasia, Jansen type
24661004	G-6-PD class III variant anemia
24663001	von Willebrand disease, type IIH
24679000	Thoracopagus parasiticus
24750000	Townes syndrome
24752008	Infantile cortical hyperostosis
24786004	7p partial monosomy (disorder)
24787008	Congenital absence of broad ligament
24814002	Potter's facies
24897005	Congenital postural lordosis
24963004	Congenital anomaly of sternocleidomastoid muscle
25010000	Benign adult cystinosis
25065001	Hemoglobin E disease
25148007	Congenital absence of uvula
25336002	Uterus parvicollis
25362006	Phytanic acid storage disease
25397008	Aqueduct of Sylvius anomaly
25418001	Primordial cyst
25425008	Autosomal recessive glutaric aciduria, type 2
25443007	X chromosome-linked pyridoxine responsive sideroblastic anemia
25472008	Sickle cell-hemoglobin D disease
25559009	Congenital absence of left pulmonary artery
25606004	Ehlers-Danlos syndrome, hydroxylysine-deficient
25617003	Congenital duodenal obstruction due to malrotation of intestine
25642007	Congenital fissure of sternum
25792000	Kearns-Sayre syndrome
25896009	Congenital atresia of ileum
25898005	Congenital secretory diarrhea
25972003	Congenital absence of rectum
26015003	Maroteaux-Lamy syndrome, intermediate form
26061003	Congenital absence of external auditory canal
26098002	Microcornea
26132002	5-Oxoprolinase deficiency
26146002	Complete transposition of great vessels
26155004	Ectopic bone tissue, congenital
26179002	Congenital atresia of esophagus
26201005	Aortic left ventricular tunnel
26252007	Chronic granulomatous disease, type IIA
26287007	Uterus incudiformis
26315009	Congenital obstruction of small intestine
26336006	Tyrosinase-positive oculocutaneous albinism
26399002	Ocular albinism
26408002	Congenital tracheocele
26409005	Congenital dyserythropoietic anemia, type III
26445008	Cat eye syndrome
26480007	11p partial trisomy syndrome
26568002	Faun tail syndrome
26590002	Congenital ectropion
26595007	Congenital absence of part of brain
26624006	Anodontia
26682008	Homozygous beta thalassemia
26718008	Robinson nail dystrophy-deafness syndrome
26730002	Persistent thyroglossal duct
26745009	Mucopolysaccharidosis, MPS-I-H/S
26780008	Coarctation of pulmonary artery
26865008	Congenital absence of superior vena cava
26885007	Cervical auricle
27025001	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
27080008	beta^0^ Thalassemia, deletion type
27173008	Tarsal coalitions
27183007	Anomaly of chromosome pair 14
27262009	Congenital absence of pectoral muscle
27272007	Byzanthine arch palate
27299009	Congenital maxillary hypoplasia
27409004	Congenital macrocheilia
27503000	Gilbert's syndrome
27637000	Dextrocardia
27642008	Dysmorphic sialidosis, congenital form
27648007	Congenital syphilitic periostitis
27680009	Congenital hyperplasia of sebaceous glands of lip
27718001	Maple syrup urine disease
27729002	Pyloric atresia
27742002	VATER association
27774009	Congenital deformity of ankle joint
27837003	Pyle metaphyseal dysplasia
27943000	Congenital glucose-galactose malabsorption
27986000	Congenital pulmonary arteriovenous aneurysm
28016005	Jackson's membrane
28041003	Congenital lip pits
28065000	Intralobar bronchopulmonary sequestration
28070007	Congenital maxillary hyperplasia
28093001	Methylene THF reductase deficiency AND homocystinuria
28183005	Fructose-biphosphatase deficiency
28204005	Inherited arthrogryposis
28212002	Intestinal lipofuscinosis
28259009	Crigler-Najjar syndrome
28550007	Congenital capsular cataract
28557005	Geleophysic dysplasia
28574005	Congenital anomaly of coronary artery
28599006	Ascher's syndrome
28656008	Congenital insufficiency of aortic valve
28681006	Metaphyseal chondrodysplasia
28682004	Congenital duplication of colon
28740008	Trigonocephaly
28770003	Polycystic kidney disease, infantile type
28828001	Gastric atresia
28861008	Crouzon syndrome
28975000	Constitutional aplastic anemia
29052002	Bilobed right lung
29057008	Venous anomaly of umbilical cord
29076005	Meckel-Gruber syndrome
29110005	Congenital absence of small intestine
29145002	Schwartz-Jampel syndrome
29155003	Ectromelia of upper limb
29248006	Metaphyseal chondrodysplasia, Schmid type
29257000	13q partial monosomy syndrome
29271008	Camptodactyly
29272001	Chronic granulomatous disease, type I
29291001	Glycogen storage disease, type VI
29307005	Craniolacunia
29326002	Ectopic hyperparathyroidism
29328001	Notomelus
29345006	Congenital atresia of ejaculatory duct
29352008	Thanatophoric dysplasia
29375001	Abnormal number of cusps
29379007	8q partial monosomy syndrome
29581008	Longitudinal deficiency of tarsal bone
29590001	Congenital total cataract
29632002	Congenital atresia of pharynx
29633007	Glycogen storage disease
29642000	Congenital adhesions of peritoneum
29715005	Darwin's tubercle
29914000	Dihydrolipoamide dehydrogenase deficiency
29928006	Congenital insufficiency of mitral valve
29934004	Anomalous pulmonary venous drainage to coronary sinus
29938001	Extralobar bronchopulmonary sequestration
29956001	Myelatelia
29980002	Congenital malrotation of intestine
30023002	Hydranencephaly
30028006	Spondyloschisis
30102006	Glucose-6-phosphate transport defect
30174008	Childhood hypophosphatasia
30188007	alpha-1-Proteinase inhibitor deficiency
30248008	Pygoamorphus
30275001	Accessory kidney
30278004	Kundrat's syndrome
30361005	1q partial monosomy
30468000	Dolichocolon
30526003	Omocephalus
30575002	Fanconi pancytopenia syndrome
30592006	Brachymetatarsia
30620003	Spina bifida of dorsal region
30652003	Ehlers-Danlos syndrome, type 3
30915001	Holoprosencephaly sequence
31076000	Congenital ischemic atrophy of central nervous system structure
31080005	Pericarditis secondary to Mulibrey nanism
31290005	Congenital hydroureter
31291009	Ectodermal dysplasia-ocular malformation syndrome
31323000	Severe combined immunodeficiency disease
31325007	Ring chromosome 21 syndrome
31339007	Congenital cyst of vulva
31368008	Thiamin-responsive maple syrup urine disease
31401003	Bicornuate uterus
31429000	Cerebral cortical dysgenesis
31570000	Congenital atresia of artery
31686000	Congenital anomaly of lower alimentary tract
31742004	Arteriohepatic dysplasia
31798004	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
31915006	Congenital deviation of ureter
31925001	Hereditary factor I deficiency disease
31981007	12p partial monosomy syndrome
32003007	Congenital anomaly of face bones
32107005	Anomaly of chromosome pair 17
32113001	Syndactyly of toes
32194006	Anomalous pulmonary venous drainage to hepatic veins
32219008	Craniorachischisis
32232003	Spina bifida of cervical region
32299009	Anomaly of chromosome pair 2
32339005	Longitudinal deficiency of metacarpal bone
32454003	Congenital anomaly of the thyroid gland
32614006	Microglossia
32659003	Congenital hypoplasia of kidney
32735002	Congenital syphilitic encephalitis
32809005	Congenital anomaly of sclera
32855007	HPFH unlinked to beta-globulin gene cluster
32891000	Rotor syndrome
32958008	Congenital micrognathism
32985001	Greig cephalopolysyndactyly syndrome
33010005	Floppy infant syndrome
33169001	Factor XI deficiency, type II
33225004	Anorectal anomaly
33229005	Microphthalmos associated with other anomalies of eye AND/OR adnexa
33257003	Congenital duplication of digestive organs
33313004	Radioulnar synostosis
33316007	Deficiency of beta-N-acetylhexosaminidase isoenzymes
33322003	Congenital deformity of forehead
33410002	Marshall syndrome
33504000	Concrescence of teeth
33521009	Congenital anomaly of lens shape
33534005	Congenital bowing of femur
33706001	7q partial trisomy (disorder)
33754009	Congenital coxa valga
33979003	Nievergelt's syndrome
33990008	Ectopic parotid gland tissue
34048007	Syndactyly of fingers
34111000	Congenital anomaly of the hand
34420000	Storage disease
34424009	Congenital duplication of vagina
34488005	Dimelia
34513009	Zebra body myopathy
34566007	Sialic acid storage disease, severe infantile type
34612006	Pelvis justo major
34638006	Lamellar ichthyosis AND trichorrhexis invaginata syndrome
34643004	Diaphyseal dysplasia
34748004	Adams-Oliver syndrome
34774005	Congenital absence of bronchus
34821005	Congenital stenosis of choanae
34852006	G-6-PD class II variant anemia
34911001	Congenital hypoplasia of penis
34925000	Megaloblastic anemia due to inborn errors of metabolism
35031005	Hanhart's syndrome
35045004	Microtia
35066007	von Willebrand disease, type IID
35082008	Cervical thymic remnant
35111009	Trisomy X syndrome
35156002	Hypoplasia of cementum
35266001	Congenital duplication of appendix
35272001	Microphakia
35387008	Congenital aphakia
35434009	Sickle cell-hemoglobin C disease
35484002	Aplasia cutis congenita
35520007	Nager syndrome
35547002	Polyotia
35555009	Accessory trachea
35577008	Holoacardius acephalus
35595006	Deradelphus
35691006	Combined deficiency of sialidase AND beta galactosidase
35742006	Congenital syphilis
35778001	Megaloblastic anemia due to error of folate metabolism
35850006	Infantile uterus
35962006	Nevus comedonicus
35964007	Congenital anomaly of nail
36010004	Congenital cerebral meningocele
36025004	Fibrous skin tumor of tuberous sclerosis
36070007	Wiskott-Aldrich syndrome
36079008	Double cardiac valve orifice
36110001	Congenital anomaly of pulmonary artery
36114005	Sex phenotype-karyotype dissociation syndrome
36133000	Abnormal position of cardiac valve
36138009	Congenital immunodeficiency disease
36172001	Congenital subluxation of hip
36233006	Congenital stenosis of tricuspid valve
36297009	Septate vagina affecting pregnancy
36313005	Dolichopellic pelvis
36369001	1p partial monosomy
36376006	Congenital absence of esophagus
36422005	Transposition of pulmonary veins
36467003	Alpha plus thalassemia
36472007	Hemoglobin S-F disease
36517007	Polyostotic fibrous dysplasia of bone
36574005	Transverse deficiency of lower limb
36601008	Craniometaphyseal dysplasia
36608002	16q partial monosomy syndrome
36619004	Congenital duplication of cystic duct
36631002	Hepatomphalocele
36659001	Congenital notching of tip of nose
36752001	Congenital splenomegaly
36775008	Displaced ureteric orifice
36799008	Glutamate-cysteine ligase deficiency
36980009	SCID due to absent adenosine deaminase
36985004	Inherited disorder of thyroid metabolism
37054000	Congenital atresia of colon
37104009	Congenital enlargement of coronary sinus
37221009	Congenital absence of all toes
37260006	Congenital tuberculosis
37281006	Cyclops hypognathus
37367006	Anomaly of chromosome pair 7
37373007	Meckel's diverticulum
37404003	Failure of rotation of colon
37495007	Familial adrenocortical hypoplasia
37506004	4q partial monosomy syndrome
37528004	Malrotation of cecum
37535007	Anomaly of chromosome pair 12
37548006	Hypopigmentation-immunodeficiency disease
37639005	Anomalous pulmonary venous drainage to right atrium
37666005	Glycogen storage disease type X
37687000	Congenital absence of cervix
37767008	Congenital deformity of wall of nasal sinus
37849005	Congenital uterine anomaly
37939008	Congenital anomaly of the bladder
37975005	Accessory ovary
38116000	Hydromyelocele
38164009	Congenital anomaly of integument
38215007	Oculodentodigital syndrome
38296007	Congenital anomaly of ovary
38353004	Congenital porencephaly
38371006	Poland anomaly
38385001	Persistent left posterior cardinal vein
38437003	Uterus arcuatus
38439000	Cranial duplication
38494008	Langer mesomelic dysplasia syndrome
38632003	Pharyngeal pituitary tissue
38776003	Congenital absence of skeletal muscle
38795005	Sialidosis
38804009	Turner syndrome
38824008	Congenital anomaly of the thymus
38827001	Congenital fusion of spine
38847009	XXXXY syndrome
38856001	Congenital anomaly of appendix
38859008	Syndactyly of toes with fusion of bones
38919006	Congenital absence of auricle with atresia of auditory canal
38993008	Tricho-dento-osseous syndrome
38998004	Brachyphalangia
39112005	Glutathione synthase deficiency with 5-oxoprolinuria
39150004	Congenital anomaly of spinal meninges
39302008	Fundus coloboma
39390005	Niemann-Pick disease, type B
39401000	Dolichocephalic dwarfism
39427000	Pachyonychia congenita syndrome
39476006	Congenital stricture of rectum
39513007	Congenital atresia of vas deferens
39526006	Redundant prepuce
39540007	Congenital depression in skull
39564008	Monocephalus
39574006	Congenital hypoplasia of inner granular layer of cerebellum
39586009	HPFH A gamma beta^+^ thalassemia
39589002	Hypoplasia of right heart
39719008	Transposition of intestine
39788007	Ectrodactyly-ectodermal dysplasia-clefting syndrome
39905002	Scimitar syndrome
39912006	Hereditary spastic paraplegia
39929009	Disorder of fatty acid metabolism
39987008	Congenital absence of right pulmonary artery
40028009	Congenital hyperplasia of intrahepatic bile duct
40052002	Congenital anomaly of neck
40108008	Thalassemia
40130009	Spina bifida without hydrocephalus
40145002	Congenital neutrophil actin dysfunction
40158001	Papillon-Lefèvre syndrome
40159009	Congenital macrostomia
40197009	Chronic granulomatous disease, type IA
40272001	Congenital absence of coronary sinus
40291001	Mietens syndrome
40315008	Annular pancreas
40320008	Double auditory canal
40354009	De Lange syndrome
40389006	12q partial trisomy syndrome
40467008	Mongolian spot
40627003	Congenital absence of vein
40751003	Persistent hyperphenylalaninemia AND tyrosinemia
40802007	Metachromatic leukodystrophy, congenital type
40873003	Sulfite oxidase deficiency syndrome
40888008	Congenital anomaly of the hematopoietic system
40929003	Nevus anemicus
40951006	Primary hyperoxaluria, type II
41013004	Argininosuccinate lyase deficiency
41040004	Complete trisomy 21 syndrome
41049003	Holoacardius amorphus
41060007	Pre-eruptive color change of tooth
41069008	Langer-Giedion syndrome
41132007	Dicephalus tripus tribrachius
41215002	Congenital abnormality of uterus, affecting pregnancy
41279003	Congenital esophagobronchial fistula
41283003	Cerebro-oculo-facio-skeletal syndrome
41300001	X-linked reduction of thyroxine-binding globulin
41337007	Conjoined twins
41443008	Multiple malformation syndrome with limb defect as major feature
41452004	Uterus acollis
41483000	Multiple malformation syndrome, small stature, without skeletal dysplasia
41495000	Disseminated superficial actinic porokeratosis
41514002	Congenital supravalvular mitral stenosis
41517009	Congenital hypertrophy of sphenoid bone
41527003	Glycogen storage disease type VIII
41572006	Mucopolysaccharidosis, MPS-III-A
41620007	Congenital anomaly of lacrimal gland
41656005	Leri's pleonosteosis syndrome
41729002	Horseshoe kidney
41788008	Hemophilia B
41797007	5,10-Methylenetetrahydrofolate reductase deficiency
41878001	Symbrachydactyly
41893002	Left ventricular-right atrial communication
41895009	Longitudinal deficiency of carpal bone
41962002	Oligohydramnios sequence
42012007	Neuronal ceroid lipofuscinosis
42162004	Congenital varus deformity of foot
42190000	Congenital absence of abdominal muscle
42283001	Cochleate uterus
42323001	Eruption cyst of jaw
42324007	Congenital duplication of cecum
42376006	Occipital encephalocele
42402006	Kartagener syndrome
42432003	Oto-palato-digital syndrome, type II
42484009	HNSHA due to hexokinase deficiency
42601008	Congenital hemolytic anemia
42618007	Congenital atresia of fallopian tube
42666000	Congenital anomaly of tracheal cartilage
42681006	Islet cell hyperplasia
42725006	Achondrogenesis, type IA
42780004	Congenital lobulation of spleen
42808000	Longitudinal deficiency of tibia
42866003	Congenital coronary artery sclerosis
42930003	Inborn error of amino acid metabolism
43036001	Ectromelia
43039008	Mesatipellic pelvis
43063000	Congenital atresia of osseous meatus of middle ear
43152001	Central core disease
43162008	Ectopic tooth
43176009	Congenital hypoplasia of tricuspid valve
43226001	Sarcotubular myopathy
43248007	Penta X syndrome
43353004	Congenital anomaly of inner ear
43383008	Congenital diverticulum of bronchus
43387009	Fetus in fetu
43420005	9q partial monosomy syndrome
43427008	Ectopic glial tissue
43437003	Submucous cleft of hard palate
43449002	Thyroglobulin proteolysis defect
43465001	Inborn error of lipoprotein metabolism
43476002	Brachydactyly
43557002	Congenital stricture of external auditory canal
43814000	Atelosteogenesis
43876007	Situs inversus viscerum
43910005	Congenital hypoplasia of aorta
43916004	Mucopolysaccharidosis, MPS-VII
43929004	Smith-Lemli-Opitz syndrome
43970002	Congenital stenosis of vagina affecting pregnancy
44215001	Radiation chimera
44231009	Cholesterol monooxygenase (side-chain cleaving) deficiency
44295002	Congenital coloboma of optic disc
44315004	Congenital absence of auricle with stenosis of auditory canal
44444001	Longitudinal deficiency of ulna
44513007	Congenital anomaly of the kidney
44518003	Celosomus
44553005	Dubin-Johnson syndrome
44593008	Eyes close set
44621005	Congenital anomaly of organ of Corti
44622003	Congenital hypoplasia of umbilical artery
44647001	Persistent hyaloid artery
44697002	Melorheostosis
44710007	Anomaly of chromosome pair 6
44796002	Ectopic ureter
44940001	Adenosine deaminase deficiency
44964000	Congenital fusion of testis
45142002	Congenital pulmonary lymphangiectasis
45163000	Congenital pontocerebellar hypoplasia
45237002	Congenital dilatation of aorta
45366001	Congenital dysfibrinogenemia
45390000	SCID due to absent IL-2 production
45414006	Glucocorticoid deficiency with achalasia
45482001	Partial aphalangia of upper limb
45484000	Partial ablepharon
45492009	Congenital stenosis of superior vena cava
45503006	Common ventricle
45525000	16q partial trisomy syndrome
45582004	Rubinstein-Taybi syndrome
45615004	Manus cava
45795007	Melanosis oculi
45798009	Congenital cardiospasm
45806008	Reduction deformity of upper limb
45920002	Pelvis plana
45963004	Factor XI deficiency, type III
45987002	Congenital shortening of tendon
46041001	Maffucci syndrome
46100008	Parasitic twin of asymmetrical conjoined twins (disorder)
46235002	Early latent congenital syphilis, positive serology, negative spinal fluid (disorder)
46248003	Hemoglobin E trait
46284005	Congenital obstruction of bladder neck
46395002	Multiple renal arteries
46434000	Assimilation pelvis
46619002	Congenital heart block
46659004	Von Hippel-Lindau syndrome
46683007	Pyruvate dehydrogenase complex deficiency
46698009	Dicephalus dipus dibrachius
46722007	Congenital anomaly of pleural folds
46760003	Estren-Dameshek anemia
46804001	Severe x-linked myotubular myopathy
46829007	Developmental displacement of brachial plexus
46907007	Congenital duplication of gallbladder

Explanation of the columns that may appear on this page:

Level

A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies

Source

The source of the definition of the code (when the value set draws in codes defined elsewhere)

Code

The code (used as the code in the resource instance)

Display

The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application

Definition

An explanation of the meaning of the concept

Comments

Additional notes about how to use the code