Standard Health Record FHIR Implementation Guide

SHR CongenitalAbnormalitiesVS ValueSet

SHR CongenitalAbnormalitiesVS ValueSet

Defining URL:
Name:SHR CongenitalAbnormalitiesVS ValueSet
Publisher:The MITRE Corporation: Standard Health Record Collaborative
Source ResourceXML / JSON / Turtle
Downloads: XML, JSON, Turtle


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

All codes from system

192008Congenital syphilitic hepatomegaly
208008Neurocutaneous melanosis sequence
290006Melnick-Fraser syndrome
378007Morquio syndrome
407000Congenital hepatomegaly
440009Persistent hyperphenylalaninemia
520004Congenital bent nose
54800413p partial trisomy syndrome
5540032p partial trisomy syndrome
590005Congenital aneurysm of anterior communicating artery
613003FRAXA - Fragile X syndrome
703000Congenital adhesion of tongue
827006Late congenital syphilis, latent (+ sero., - C.S.F., 2 years OR more)
841002Congenital absence of skull bone
943003Congenital retinal aneurysm
975000Anorectal agenesis
1051005Hyperplasia of islet alpha cells with gastrin excess
1131009Congenital valvular insufficiency
1150009Congenital microcheilia
1232006Congenital articular rigidity with myopathy
1239002Congenital anteversion of femoral neck
1271009Knuckle pads, leuconychia and deafness
1280009Isologous chimera
1287007Congenital absence of bile duct
1372004Unicornate uterus
1393001Lenz-Majewski dysplasia
1418007Hypoplastic chondrodystrophy
147900920q partial trisomy syndrome
1492007Congenital anomaly of large intestine
1512006Congenital stricture of bile duct
1519002Congenital phlebectasia
1538006Central nervous system malformation in foetus affecting obstetrical care
1542009Omphalocele with obstruction
1694004Accessory lobe of lung
1744008Connation of teeth
1779005OFD II - Orofacial-digital syndrome II
1856001Accessory nose
1857005Congenital rubella syndrome
1896004Ectopic breast tissue
1908008von Willebrand disease, type IIC
1922008Congenital absence of urethra
1953005Congenital deficiency of pigment of skin
1955003Preauricular pit
1967001Congenital absence of forearm only
2167004Retinal hemangioblastomatosis
2213002Congenital anomaly of vena cava
2241003X-linked absence of thyroxine-binding globulin
2298005Focal facial dermal dysplasia
2355008Rud syndrome
2495006Congenital cerebral arteriovenous aneurysm
2534005Congenital absence of vena cava
2560006Complex syndactyly of fingers
2593002Dubowitz syndrome
2625009Senter syndrome
2689001Dominant dystrophic epidermolysis bullosa with absence of skin
2736005Honeycomb atrophy of face
2749000Congenital deformity of hip
2818004Congenital vascular anomaly of eye
2828008Congenital stenosis of nares
2829000Uhl disease
2884008Spherophakia-brachymorphia syndrome
2893009Anomaly of chromosome pair 10
2965006Nevoid congenital alopecia
3004001Congenital dilatation of esophagus
3073006Ruvalcaba syndrome
3439009Severe combined immunodeficiency (SCID) due to absent peripheral T cell maturation
3650004Congenital absence of liver,total
3660008Lethal glossopharyngeal defect
3680009Monocephalus tripus dibrachius
3699000Transverse deficiency of arm
3705009Congenital malformation of anterior chamber of eye
3733009Congenital eventration of right crus of diaphragm
3783004Enamel pearls
3845008Duplication of intestine
3886001Congenital fecaliths
3987009Congenital absence of trachea
4004009Monster with cranial anomalies
4041005Congenital anomaly of macula
413500111p partial monosomy syndrome
4136000Macrodactylia of toes
4160001Congenital anomaly of upper respiratory system
4170004Ehlers-Danlos syndrome, procollagen proteinase resistant
4184009Congenital malformation of the endocrine glands
4191007Scaphoid head
4195003Duplication of anus
419900918p partial trisomy syndrome
424200918q partial monosomy syndrome
4313003Acardiacus anceps
432500011q partial monosomy syndrome
4359001Early congenital syphilis
4374004TV - Congenital tricuspid valve abnormality
4397001Partial congenital duodenal obstruction
4406004Congenital anomaly of male genital system
4434006BS - Bloom syndrome
4495005Congenital hypertrophy of ureteric valve
4530000Madelung deformity
4602007Pierre Robin association
4667004Female infertility due to structural congenital anomaly of vagina
4702003Inherited disorder of folate metabolism
4711003Bile duct anomalies
4749004Nasopalatine duct cyst
4752007Fetal sacral teratoma causing disproportion
4852000Congenital metatarsus varus
487400611q partial trisomy syndrome
4887000Tyrosinemia type 2
4920001Deficiency of acetyl-CoA carboxylase
5051002Anomaly of chromosome pair 9
5087009Brachypellic pelvis
5102002Congenital absence of corpus callosum
5132005KP - Keratosis pilaris
5153001Ectopic anus
5187006Prune belly syndrome
5203004Myxomatosis of cardiac valve
5230009Congenital absence of coronary artery
5286009Absent vasa
5335002Phosphoenolpyruvate carboxykinase deficiency
5361003Congenital nuclear cataract
5364006Uterus subseptus
5388008Congenital lactase deficiency
5397007Congenital anomaly of renal pelvis
5432003Transposition of appendix
5565008Congenital diverticulum of trachea
5601008Klippel-Feil sequence
5619004Bardet-Biedl syndrome
5645008Nasal glial heterotopia
5655007Inherited disorder of bilirubin metabolism
5667009Hunter's syndrome, mild form
5842009Spinal cord dysplasia
5867007Congenital exomphalos
5963005Subacute neuronopathic Gaucher's disease
5968001Congenital fusion of sacroiliac joint
59820012q partial trisomy syndrome
600200610p partial monosomy syndrome
6075009Glycogen storage disease, hepatic form
6267005Congenital syphilitic meningitis
6282000Congenital anomaly of vas deferens
6296006Congenital dilatation of trachea
6380005Inverted pelvis
6477005Malrotation of colon
6479008Partial albinism
6483008Tyrosinase-negative oculocutaneous albinism
6537000Ectopic pituitary tissue
6573007Reniform pelvis
6636004Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium
6688006Congenital absence of patella
6724001Ectopic pancreas in duodenum
6729006Cerebral-retinal arteriovenous aneurysm
6839008VACTEL syndrome
6874009Congenital keratoderma
6936002Cleft lip sequence
6996004Absent pulmonary valve
7037003XTE syndrome
7086001Single monster
7102003Omental cyst
7134007Osteogenesis imperfecta, dominant perinatal lethal
7169009Congenital supravalvular aortic stenosis
7199000TS - Tuberous sclerosis
7259005Galactose-6-sulfatase deficiency
7265005Glycogen storage disease, type I
7266006Total placenta previa with intrapartum hemorrhage
7305005Coarctation of aorta
7322007Accessory adrenal cortex
7368005DOLV - Double outlet left ventricle
7438000Congenital atresia of aorta
7481002Congenital atresia of epiglottis
7484005Double outlet right ventricle
7522008Persistent tuberculum impar
7573000Classical phenylketonuria
758600914q partial trisomy syndrome
7601009Duplication of urethral meatus
7611002Septo-optic dysplasia sequence
7720002Cartilage hair syndrome
7722005Thoracopagus epigastricus
7727004Absence of head AND spinal column
7731005Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
7763004Dicephalus dipus tribrachius
7810004Glycoprotein storage disorder
7903009Hallermann-Streiff syndrome
7907005Cylindrical embryo
7921007Congenital deformity of clavicle
7964000Congenital listeriosis
8032007Congenital anomaly of thyroid cartilage
8234004XY females
8239009Primary endocardial fibroelastosis
8301004Caudal dysplasia sequence
8375009Maxillary retrognathism
8447006Congenital anomaly of skeletal bone
8587003Congenital diverticulum of colon
8632008Schwartz syndrome
8634009Distichiasis-lymphedema syndrome
8649001Congenital anomaly of thoracic cage
8654005Ectodermal dysplasia
8712002Congenital subaortic stenosis of membranous type
8757006Hecht syndrome
8793008Rokitansky sequence
8800006Female pseudohermaphroditism
8808004Multiple carboxylase deficiency - late onset
8851000Nagele's pelvis
8915006Congenital hypoplasia of breast
8933000Crigler-Najjar syndrome, type I
8986002Transposition of colon
9031009Porokeratosis of Mibelli, linear unilateral type
9252005Congenital bowing of tibia and/or fibula
9297001Uterus bicornis affecting pregnancy
9311003Hermansky-Pudlak syndrome
9446007Coloboma of iris
9527009Tetrasomy 12p
9537004GM>2< gangliosidosis, type 3
9634000Congenital dislocation of radial head
9660004Congenital tracheal stenosis
9723006Hyperphosphatasemia with bone disease
9839007Anomaly of chromosome pair 20
9904008Congenital cardiovascular disorder
9918001Floating kidney
9941009Congenital syphilitic chorioretinitis
9989000Congenital anomaly of toe
10007009Coffin-Siris syndrome
10033001Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
10078003Turner's tooth
10155006Bilateral congenital dislocation of hip
10170007Black locks, oculocutaneous albinism, AND deafness of the sensorineural type
10177005Triploidy, diploidy, mixoploidy syndrome
10283004Congenital stenosis of cervical canal
10362008Accessory spleen
10375008Extrapulmonary subpleural pulmonary sequestration
10451007Double aortic arch
10567003Four X syndrome
1057200713q partial trisomy syndrome
10631000Trilobed left lung
10653003Congenital mandibular hyperplasia
10741005Lipid storage disease
10786008Spinobulbar atrophy
10818008Congenital abnormality of cardiac position
10866001Congenital pancreatic enterokinase deficiency
10930001Congenital atresia of pulmonary artery
10989008Talipes equinus
11102005Congenital fistula of lip
11144004Congenital stricture of osseous meatus of middle ear
11160000Brown oculocutaneous albinism
11179002Branching enzyme deficiency
11194003Congenital anomaly of anus
11223009Congenital abnormality of pharynx
11243003Oculocutaneous albinoidism
11266002Upper esophageal web
11378000Persistent urogenital sinus
11433004Congenital coronary artery fistula
11552008Complete congenital duodenal obstruction
11614003Congenital pulmonary vein stenosis
11646003Congenital inversion of nipple
11731003Congenital webbing of neck
12017008Congenital absence of ovary
12070002Congenital laryngeal stenosis
12075007Ascending aortic hypoplasia
12104008Congenital rectocloacal fistula
12246008Glucocerebrosidase deficiency type II
12252009Congenital absence of sternum
12270007Supernumerary roots
12316007Persistent fetal uterus
12322003Congenital eventration of left crus of diaphragm
12351004Crowding of teeth
12362004Congenital anomaly of external female genitalia
12427005Congenital primary adrenocortical hypofunction
12458006Congenital macrognathism
12501008von Willebrand disease, type IIF
12674005Multiple malformation syndrome with senile-like appearance
12721007Trifid tongue
12770006Cyanotic congenital heart disease
12897005Congenital stricture of ureteropelvic junction
12907000Thiamine-responsive megaloblastic anemia
13059002Congenital ichthyosis of skin
131440053-Methylcrotonyl-CoA carboxylase deficiency
13213009Congenital heart disease
13236000Congenital spondylolisthesis
13262009Synechia vulvae
13280000Femoral hypoplasia - unusual facies syndrome
13282008Congenital corneal opacity interfering with vision
13401001Ablepharon - absent eyelids
13453009Anomalous muscle bands of left ventricle
13499006Congenital anomaly of lacrimal system
13530005Congenital lobulation of kidney
13555004Ring chromosome 22 syndrome
13568007Congenital duplication of stomach
13624003Congenital cleft hand
13630003Agenesis of lobe of liver
13671009Congenital urethral stenosis
13674001Anomaly of chromosome pair 3
13689005Congenital aortic valve abnormality
13806003Congenital abnormality of urethra
13867009Preductal coarctation of aorta
1409100912p partial trisomy syndrome
14178006Double renal pelvis
14365001Congenital prolapse of bladder
14430002Congenital stenosis of small intestine
14447001Dandy-Walker malformation
14482000Aberrant origin of subclavian artery
14532008Congenital anomaly of trachea
14552009Vestigial remnants of canal of Cloquet
14637005Late-infantile neuronal ceroid lipofuscinosis
14689000Uterus cordiformis
14821001Situs ambiguus
14870002Achondrogenesis, type IB
14886009Abdominal heart
14921002Aarskog syndrome
15059000Retinal dystrophy in systemic lipidosis
15069006Russell-Silver syndrome
15080006Myotubular myopathy with type I atrophy
15096009Congenital insufficiency of the pulmonary valve
15135007Congenital transposition of stomach
15182000CLS - Coffin-Lowry syndrome
15191001Origin of innominate artery from left side of aortic arch
15307001Multiple carboxylase deficiency, neonatal onset
15346004Familial hypoalphalipoproteinemia
15347008Double kidney AND/OR pelvis
15419008Congenital pyloric membrane
15453007Congenital dislocation of knee with genu recurvatum
15459006Endocardial cushion defect
15545001Congenital duplication of uterus
15552004Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
15557005First arch syndrome
15582005Agenesis of lobe of lung
15663008Placenta previa centralis
15671007Encephalocele of orbit
15788006Congenital cleft thyroid cartilage
15796001Maxillary prognathism
1584100221q partial monosomy syndrome
15843004Congenital absence of vertebra
15892005Mucopolysaccharidosis, MPS-III-D
15978003Glycogen storage disease, muscular form
15991002Severe steroid 21-hydroxylase deficiency
16026008Hypoplasia of the cerebellum
16071000Congenital generalized flexion contractures of lower limb joints
1612900410q partial monosomy syndrome
16297002Primary hydronephrosis
16376000Congenital duodenal stenosis
16507009Ectopic kidney
16512005Congenital absence of membranous labyrinth
16517004Cerebral lipidosis
16567006Midline heart
16569009Anomaly of chromosome pair 15
16585004Congenital spade-like hand
16619007Congenital occlusion of ureter
16652001Fabry's disease
16856000Longitudinal deficiency of humerus
16904009Incomplete congenital absence of thigh AND leg
16958000Total anodontia of permanent and deciduous teeth
16972009Congenital aneurysm of aorta
17021009Congenital absence of leg with foot AND toes
17024001Aortic septal defect
17025000Ehlers-Danlos syndrome ecchymotic type E-D
17122004Deletion of short arm of chromosome 4
17128000Congenital eventration of diaphragm
17142008Congenital absence of uterus
17170005Pili torti
17190001CDH - Congenital diaphragmatic hernia
17231009Congenital malformation due to valproate
17234001Allantoic cyst
17268007Congenital clinodactyly
17337006Double artery
17394001Ebstein anomaly with atrial septal defect
17422006Ectopic thymic tissue
17480001Atresia iridis
17484005Batwing deformity
17527002Overriding skull bones
17601009Congenital subluxation of carpus
17604001Bilateral right-sidedness sequence
17608003Child syndrome
17718000Ostium primum defect
17760001Anomaly of chromosome pair 13
17808001Azygos lobe of lung
17818006Leri-Weill syndrome
17827007Cross syndrome
17885001Iodotyrosine deiodination defect
17901006Primary hyperoxaluria
18077009Trichorhinophalangeal syndrome
18132009Congenital deformity of sacroiliac joint
18166000Accessory breast
18241005Early urethral obstruction sequence
18269002Congenital duodenal obstruction
18273004Unstable hemoglobin disease
18417009Oligomeganephronic hypoplasia
18546004Congenital stenosis of aortic valve
18620009Sequestration of lung
18749008Congenital koilonychia
18756002GM1 Gangliosidosis type II
18792003H-type congenital tracheoesophageal fistula
18805001Congenital secretory diarrhea, sodium type
18820007Preauricular cyst
18821006Dysplasia of eye
18822004Centrofacial lentiginosis
18899000Schinzel-Giedion syndrome
18910001Cleft uvula
18927009Niemann-Pick disease type D
19042000Prolapse of urethral mucosa - congenital
19092004Holt Oram syndrome
19133005NF - Neurofibromatosis
19138001Epidermodysplasia verruciformis
19179000Ischiopagus twins
19249002Closure of fetal foramen ovale
19276002Congenital cerebral cyst
19290004Clutton's joint
19387007Ectopic pancreas
19416009Congenital malformation of eye
194190028p partial monosomy syndrome
19441002Occipital dysplasia
19520006von Willebrand disease, type IIB
1955000322q partial monosomy syndrome
19604005Triglyceride storage disease with ichthyosis
19833008Nodular calcific aortic valve stenosis
19886006Encephalofacial hemangiomatosis
20110000Porokeratosis of Mibelli, plaque type
20136007Accessory carpal bones
20305008Becker myotonia congenita
2034800214q partial distal trisomy syndrome
20392000Congenital entropion
20491006Calcaneonavicular bar
20510008Torsion of accessory fallopian tube
20756002Adult hypophosphatasia
20766005Ehlers-Danlos syndrome type II
20815007Exstrophy of cloaca sequence
20834007Congenital cubitus varus
20852007Romano-Ward syndrome
20919000Congenital liver grooves
20944008Congenital postural scoliosis
20948006Congenital anomaly of finger
21086008Cockayne syndrome
21111006Complete trisomy 13 syndrome
21234008Congenital stenosis of aorta
21279007Lingual thyroid
21321009Ambiguous genitalia
21346009Double uterus affecting pregnancy
21350002Colloid cyst of third ventricle
21367009Autosomal dominant variant form of albumin
21508001Complete trisomy 14 syndrome
21527007Chronic granulomatous disease, type IV
21565000Accessory broad ligament
21590003Congenital zonular cataract
21634003Borjeson syndrome
21764004Renal carnitine transport defect
21848000Angiokeratoma circumscriptum
21877004Osler hemorrhagic telangiectasia syndrome
21893008Manus valga
21905007Congenital abnormality of middle ear
21926007Pili annulati
21981000Single coronary artery
21984008Riley-Smith syndrome
21995002Natal teeth
21998000Robert pelvis
22006008Eyes widely set
22053006Klinefelter syndrome
22062008X-linked glutaric aciduria, type 2
22099008Congenital valgus deformity of foot
22133005Congenital anomaly of the peripheral nervous system
22138001Congenital ear lobe absence
22155002Anterior chamber cleavage syndrome
22199006Nail-patella syndrome
22406001Severe combined immunodeficiency (SCID) due to absent lymphoid stem cells
22421007Congenital absence of bladder
22471005Hemispheric cerebellar agenesis
224970049q partial trisomy syndrome
22504001Uterus bilocularis
22558005Iodide transport defect
22567005Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
22589009Congenital absence of salivary gland
22750001Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava
22764001Metatropic dwarfism syndrome
22810007Mandibular prognathism
22830006Juvenile nephropathic cystinosis
22845004Congenital septation of gallbladder
22868008Longitudinal deficiency of phalanges of hand
22886006Glutaric aciduria, type 2
22933009Glucose-6-phosphate dehydrogenase deficiency class I variant anemia
22935002Uroporphyrinogen III synthase deficiency
23061007Congenital anomaly of cricoid cartilage
23063005Mitral atresia
23150001Proteus syndrome
23156007Mild maple syrup urine disease
23238000Common variable agammaglobulinemia
23359005Multiple malformation syndrome with facial-limb defects as major feature
23402009Congenital stricture of ureterovesical orifice
23407003Congenital pes planus
23501004Deficiency of arginase
23512004Atresia of salivary duct
23536000Hypothyroidism due to coupling defect
23544000Congenital stricture of vagina
23568008Congenital metatarsus adductus
23585005Lysosomal enzyme defect
23610003Congenital absent nails
23678004Congenital pyloric antral membrane
23686004Ring chromosome 20 syndrome
23695007Fetal congenital tumor causing disproportion
23817003Levy-Hollister syndrome
23849003Sandhoff disease
23876003Congenital dislocation of shoulder
23880008Congenital anomaly of peripheral nerve
23914009Ectopic splenic tissue
23939000Imperfect fusion of skull
24140005Median mandibular cyst
24194000Cleft hard palate with cleft soft palate, bilateral
24210004Congenital chorioretinal degeneration
24269006Distal arthrogryposis
24291004Congenital megacolon
24308003Deficiency of serine sulfhydrase
24358005Accessory thymus gland
24412005Congenital secretory diarrhea, chloride type
24559001Vohwinkel's mutilating keratoderma
24606006Accessory eyelid
24614000Isomerism sequence
24629003Metaphyseal chondrodysplasia, Jansen type
24661004Glucose-6-phosphate dehydrogenase deficiency class III variant anemia
24663001von Willebrand disease, type IIH
24679000Thoracopagus parasiticus
24704003Blue cone monochromatism
24750000Townes Brocks syndrome
24752008Familial infantile cortical hyperostosis
247860047p partial monosomy syndrome
24787008Congenital absent broad ligament
24814002Potter facies
24897005Congenital postural lordosis
24963004Congenital deformity of sternocleidomastoid muscle
25010000Benign adult nephropathic cystinosis
25109007Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome
25129008Hydromeningocele, congenital
25148007Congenital absence of uvula
25336002Uterus parvicollis
25362006Hereditary motor and sensory neuropathy type IV
25397008Aqueduct of Sylvius anomaly
25418001Primordial cyst
25425008Autosomal recessive glutaric aciduria, type 2
25559009Congenital absence of left pulmonary artery
25606004Kyphoscoliosis type
25617003Congenital duodenal obstruction due to malrotation of intestine
25642007Congenital fissure of the sternum
25792000Kearns-Sayre mitochondrial cytopathy
25896009Congenital atresia of ileum
25898005Congenital secretory diarrhea
25972003Congenital absence of rectum
26015003Maroteaux-Lamy syndrome, intermediate form
26061003Congenital absence of external auditory canal
26098002Cornea small
261320025-Oxoprolinase deficiency
26146002Complete TGA
26155004Ectopic bone tissue, congenital
26179002OA - Esophageal atresia
26201005Aortic left ventricular tunnel
26252007Chronic granulomatous disease, type IIA
26287007Uterus incudiformis
26315009Congenital obstruction of small intestine
26336006OCA2 - Tyrosinase-positive oculocutaneous albinism
26399002Ocular albinism
26408002Congenital tracheocele
26409005Congenital dyserythropoietic anemia type III
26445008CES - Cat eye syndrome
2648000711p partial trisomy syndrome
26568002Faun tail syndrome
26590002Congenital ectropion
26595007Congenital absence of part of brain
26718008Robinson nail dystrophy-deafness syndrome
26730002Persistent thyroglossal duct
26745009Mucopolysaccharidosis type I-H/S
26780008Coarctation of pulmonary artery
26825009Cutis marmorata
26865008Congenital absence of superior vena cava
26885007Cervical auricle
27025001Hypohidrotic autosomal recessive ectodermal dysplasia
27173008Tarsal coalition
27183007Anomaly of chromosome pair 14
27262009Congenital absence of pectoral muscle
27272007Byzanthine arch palate
27299009Congenital maxillary hypoplasia
27330009Short rib-polydactyly syndrome, non-Majewski type
27409004Congenital macrocheilia
27503000Gilberts syndrome
27637000Right sided heart
27642008Dysmorphic sialidosis, congenital form
27648007Congenital syphilitic periostitis
27680009Congenital hyperplasia of sebaceous glands of lip
27718001Branched chain ketoacid dehydrogenase deficiency
27729002Pyloric atresia
27742002Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia (VATER) association
27774009Congenital deformity of ankle
27837003Pyle's disease
27943000Congenital glucose-galactose malabsorption
27986000Congenital pulmonary arteriovenous aneurysm
28016005Jackson's veil
28041003Lip pits
28065000Intralobar bronchopulmonary sequestration
28070007Congenital maxillary hyperplasia
28093001Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
28183005Fructose-1,6-bisphosphatase deficiency
28204005Inherited arthrogryposis
28212002Intestinal lipofuscinosis
28259009Crigler-Najjar syndrome
28550007Congenital capsular cataract
28557005Geleophysic dysplasia
28574005Congenital anomaly of coronary artery
28602001Pyridoxine dependency syndrome
28656008AR - Congenital aortic regurgitation
28681006Metaphyseal chondrodysplasia
28682004Congenital duplication of colon
28740008Triangular skull
28770003Autosomal recessive polycystic kidney disease
28828001Gastric atresia
28861008Crouzon syndrome
29052002Two lobed right sided lung
29057008Venous anomaly of umbilical cord
29076005Meckel-Gruber syndrome
29110005Congenital absence of small intestine
29145002Chondrodystrophic myotonia
29155003Ectromelia of upper limb
29248006Metaphyseal chondrodysplasia, Schmid type
2925700013q partial monosomy syndrome
29271008Congenital campylodactyly
29272001Chronic granulomatous disease, type I
29291001Glycogen storage disease, type VI
29326002Ectopic hyperparathyroidism
29345006Atresia of ejaculatory duct
29352008Thanatophoric dwarfism
29375001Abnormal number of cusps
293790078q partial monosomy syndrome
29441003Klippel disease
29504002Posterior polymorphous corneal dystrophy
29553002Peg-shaped tooth
29581008Longitudinal deficiency of tarsal bone
29590001Congenital total cataract
29632002Pharyngeal atresia
29633007GSD - Glycogen storage disease
29642000Congenital peritoneal bands
29715005Darwin tubercle
29914000Maple syrup urine disease, type III
29928006MR - Congenital mitral regurgitation
29934004Anomalous pulmonary venous drainage to coronary sinus
29938001Extralobar bronchopulmonary sequestration
29980002Malrotation of intestine
30005005Porokeratosis of Mibelli, superficial disseminated type
30102006Glycogen storage disease type Ib
30174008Childhood hypophosphatasia
30188007Alpha-1-antitrypsin deficiency
30275001Accessory kidney
30278004Kundrat syndrome
30288003VSD - Ventricular septal defect
303610051q partial monosomy syndrome
30449003Congenital talipes calcaneovarus
30575002Fanconi's hypoplastic anemia
30592006Longitudinal deficiency of metatarsal bone
30620003Thoracic spina bifida
30652003Ehlers-Danlos syndrome type III
30915001HPE - Holoprosencephaly
31076000Congenital ischemic atrophy of central nervous system structure
31080005Pericarditis secondary to Mulibrey nanism
31269002Polysomatous monster
31290005Hydroureter - congenital
31291009Ectodermal dysplasia-ocular malformation syndrome
31323000SCID - Severe combined immunodeficiency
31325007Ring chromosome 21 syndrome
31339007Congenital cyst of vulva
31368008Thiamin-responsive maple syrup urine disease
31401003Bicornuate uterus
31429000Cerebral cortical dysgenesis
31481000Vascular anomaly of umbilical cord
31570000Congenital atresia of artery
31668003Talipes calcaneovalgus
31686000Congenital anomaly of lower gastrointestinal tract
31742004Arteriohepatic dysplasia
31798004Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
31915006Congenital deviation of ureter
31925001Hereditary factor I deficiency disease
3198100712p partial monosomy syndrome
32003007Face congenital deformities
32107005Anomaly of chromosome pair 17
32113001Fused toes
32194006Anomalous pulmonary venous drainage to hepatic veins
32219008Craniorachischisis (fissure skull/vertebral column)
32232003Cervical spina bifida
32299009Anomaly of chromosome pair 2
32339005Longitudinal deficiency of metacarpal bone
32454003Congenital malformation of thyroid gland
32455002Manus extensa
32614006Microglossia - congenital
32659003Renal hypoplasia
32735002Congenital syphilitic encephalitis
32809005Congenital abnormality of sclera
32891000Hyperbilirubinemia type I
32985001Greig cephalopolysyndactyly syndrome
33010005Congenital hypotonia
33225004Anorectal malformation
33229005Microphthalmos associated with other anomalies of eye AND/OR adnexa
33257003Congenital duplication of digestive organs
33313004Radioulnar synostosis
33316007GM 2 gangliosidosis
33322003Congenital forehead deformity
33410002Marshall's syndrome
33494005Talipes calcaneus
33504000Concrescence of teeth
33521009Congenital malformation of lens
33534005Congenital bowing of femur
33662006Adult junctional epidermolysis bullosa
337060017q partial trisomy syndrome
33754009Congenital coxa valga
33979003Nievergelt syndrome
33990008Ectopic parotid gland tissue
34048007Syndactyly of the fingers
34111000Congenital abnormality of hand and digits
34420000Storage disease
34424009Doubling of vagina
34504007Mandibular retrognathism
34513009Zebra body myopathy
34566007Infantile sialic acid storage disease
34612006Pelvis justo major
34638006Lamellar ichthyosis AND trichorrhexis invaginata syndrome
34643004Engelmann syndrome
34705005MVRCS association
34748004Type 2 aplasia cutis
34774005Absence of bronchus
34821005Congenital stenosis of the posterior nares
34852006Glucose-6-phosphate dehydrogenase deficiency class II variant anemia
34925000Megaloblastic anemia due to inborn errors of metabolism
34960006Normosomatic sialidosis
35031005Hanhart syndrome
35045004Microtia with meatal atresia
35066007von Willebrand disease, type IID
35082008Cervical thymic remnant
35111009Triple X female
35156002Hypoplasia of cementum
35266001Double appendix
35387008Agenesis of lens
35484002Congenital absence of skin
35520007Nager syndrome
35547002Supernumerary ear
35555009Accessory trachea
35577008Holoacardius acephalus
35591002Abnormal tooth spacing
35604006Persistent foetal circulation syndrome
35691006GSL - Galactosialidosis
35742006Congenital syphilis
35778001Megaloblastic anemia due to error of folate metabolism
35850006Congenital uterine hypoplasia
35962006Comedo nevus
35964007Congenital anomaly of nail
36010004Congenital cerebral meningocele
36025004Angiokeratoma in tuberous sclerosis
36070007Eczema, thrombocytopenia, immunodeficiency syndrome
36079008Double cardiac valve orifice
36110001Pulmonary artery congenital abnormality
36114005Sex phenotype-karyotype dissociation syndrome
36133000Abnormal position of cardiac valve
36138009Congenital immunodeficiency disease
36172001Congenital subluxation of hip
36193003Congenital malformation due to thalidomide
36233006TS - Congenital tricuspid stenosis
36297009Septate vagina affecting pregnancy
36313005Dolichopellic pelvis
363690011p partial monosomy syndrome
36376006Absent esophagus
36422005Transposition of pulmonary veins
36517007MAS - McCune-Albright syndrome
36574005Transverse arrest of the leg
36601008Craniometaphyseal dysplasia
3660800216q partial monosomy syndrome
36619004Duplication of cystic duct
36659001Congenital notching of tip of nose
36752001Congenital splenomegaly
36775008Ectopic insertion of ureter
36799008Gamma-glutamylcysteine synthetase deficiency
36871005Fetal isotretinoin syndrome
36980009Severe combined immunodeficiency (SCID) due to absent adenosine deaminase
36985004Inherited disorder of thyroid metabolism
37028008Juvenile tabes
37054000Colonic atresia
37104009Congenital aneurysm of coronary sinus
37171002Abnormal number of leaflets
37221009Congenital absence of all toes
37260006Congenital tuberculosis
37281006Cyclops hypognathus
37355009Royer syndrome
37367006Anomaly of chromosome pair 7
37373007Meckel diverticulum
37382001Known OR suspected foetal spina bifida with myelomeningocele affecting obstetrical care
37404003Failure of rotation of colon
37506004Chromosome 4q deletion syndrome
37528004Malrotation of cecum
37535007Anomaly of chromosome pair 12
37548006Griscelli syndrome
37639005Anomalous pulmonary venous drainage to right atrium
37666005Glycogen storage disease type X
37687000Congenital absence of cervix
37767008Congenital deformity of wall of nasal sinus
37849005Congenital anomaly of uterus
37891007Discoid kidney
37939008Congenital abnormality of the bladder
37975005Accessory ovary
38089000Tooth rotation
38164009Congenital integument anomalies
38209007Encephalo-ophthalmic dysplasia
38215007Curtius' syndrome I
38296007Anomalies of ovaries
38323006Dysmorphism due to warfarin
38353004Congenital porencephaly
38371006Poland syndrome
38385001Persistent left posterior cardinal vein
38437003Uterus arcuatus
38439000Conjoined twins with two heads
38494008Mesomelic dysplasia - Langer type
38632003Pharyngeal pituitary tissue
38776003Congenital absence of skeletal muscle
38795005Cherry-red spot myoclonus syndrome
38804009Turner's syndrome
38824008Congenital malformation of thymus
38827001Congenital fusion of spine
38847009XXXXY syndrome
38856001Congenital anomaly of appendix
38859008Osseous syndactyly of toes
38919006Congenital absence of auricle with atresia of auditory canal
38993008TDO - Trichodento-osseous syndrome
39112005Pyroglutamic acidemia
39150004Congenital anomaly of spinal meninges
39302008Congenital coloboma of retina
39390005Niemann-Pick disease type B
39401000Dolichocephalic dwarfism
39427000Pachyonychia congenita syndrome
39476006Congenital rectal stenosis
39513007Atresia of vas deferens
39526006Long foreskin
39540007Congenital depressions in skull
39574006Congenital hypoplasia of inner granular layer of cerebellum
39589002Hypoplasia of right heart
39719008Transposition of intestine
39788007Ectodermal dysplasia with ectrodactyly and cleft lip or palate
39905002Scimitar syndrome
39912006HSP - Hereditary spastic paraplegia
39929009Disorders of fatty-acid metabolism
39987008Congenital absence of right pulmonary artery
40028009Congenital hyperplasia of intrahepatic bile duct
40052002Congenital malformation of the neck
40130009Spina bifida without hydrocephalus
40145002Congenital neutrophil actin dysfunction
40158001Papillon-Lefevre syndrome
40159009Congenital macrostomia
40191005Glycogen storage disease type 9
40193008One vessel umbilical cord
40197009Chronic granulomatous disease, type IA
40210001Floating liver
40272001Absent coronary sinus
40291001Mietens syndrome
40315008Annular pancreas
40320008Double auditory canal
40354009Degenerative amstelodamensis typus
4038900612q partial trisomy syndrome
40467008Mongolian blue spot
40627003Congenital absence of vein
40751003Persistent hyperphenylalaninemia AND tyrosinemia
40802007Metachromatic leukodystrophy, congenital type
40873003Sulfite oxidase deficiency syndrome
40888008Congenital anomaly of the hematopoietic system
40929003Nevus anemicus et oligemicus
40951006Deficiency of glyoxylate reductase
41013004Deficiency of argininosuccinate lyase
41040004T21 - Trisomy 21
41049003Amorphus globosus
41060007Pre-eruptive color change of tooth
41069008Trichorhinophalangeal syndrome II
41132007Dicephalus tripus tribrachius
41142009Adult type Krabbe disease
41215002Congenital abnormality of uterus, affecting pregnancy
41279003Congenital bronchesophageal fistula
41283003CAMAK - Cerebro-oculo-facio-skeletal syndrome
41300001X-linked reduction of thyroxine-binding globulin
41337007Conjoined twins
41443008Multiple malformation syndrome with limb defect as major feature
41452004Uterus acollis
41483000Multiple malformation syndrome, small stature, without skeletal dysplasia
41495000Actinic porokeratosis
41514002Congenital supravalvular mitral stenosis
41517009Congenital hypertrophy of sphenoid bone
41527003Glycogen storage disease type 8
41572006Heparan sulfamidase deficiency
41620007Congenital anomaly of lacrimal gland
41656005Leri pleonosteosis syndrome
41729002Horseshoe kidney
41797007Methylenetetrahydrofolate reductase deficiency
41878001Brachysyndactyly of the fingers
41893002Right sided atrium connecting to left ventricle
41895009Longitudinal deficiency of carpal bone
41962002BRA - Bilateral renal agenesis
42012007Neuronal ceroid lipofuscinosis
42162004Congenital talipes varus
42183005Pseudohypoparathyroidism type II
42190000Congenital absence of abdominal muscle
42283001Cochleate uterus
42324007Duplication of cecum
42376006Occipital encephalocele
42402006Siewert syndrome
42432003Otopalatodigital syndrome type 2
42484009Hereditary nonspherocytic hemolytic anemia (HNSHA) due to hexokinase deficiency
42601008Congenital hemolytic anemia
42618007Congenital absence of oviduct
42666000Anomaly of tracheal cartilage
42681006Pancreatic endocrine cell hyperplasia
42725006Achondrogenesis, type IA
42780004Lobulation of spleen
42808000Longitudinal reduction defect of tibia
42866003Congenital coronary artery sclerosis
42930003Inborn error of amino acid metabolism
43039008Mesatipellic pelvis
43063000Congenital atresia of osseous meatus of middle ear
43152001Central core myopathy
43162008Ectopic tooth
43176009Congenital hypoplasia of tricuspid valve
43226001Sarcotubular myopathy
43248007Penta X syndrome
43353004Congenital malformation of inner ear
43383008Congenital diverticulum of bronchus
43387009Foetus in foetu
434200059q partial monosomy syndrome
43427008Ectopic glial tissue
43437003Submucous cleft palate
43449002Thyroglobulin proteolysis defect
43452005Double monster
43465001Inborn error of lipoprotein metabolism
43557002Congenital stricture of external auditory canal
43814000Atelosteogenesis/diastrophic dysplasia group
43876007Situs inversus
43910005Congenital hypoplasia of aorta
43916004Sly disease
439290047-Dehydrocholesterol reductase deficiency
43970002Congenital stenosis of vagina affecting pregnancy
44215001Radiation chimera
44231009Defective synthesis of cholesterol desmolase
44295002Congenital optic disc coloboma


This value set is used by the following profiles and extensions: