| Diseases |
Alias |
|
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
VACTERLX
|
X-Linked Vacterl Association
|
|
Vacterl-H, X-Linked
|
Vacterl Association, X-Linked
|
|
Vacterl Association, X-Linked With Or Without Hydrocephalus
|
Vacterl Association X-Linked With Or Without Hydrocephalus
|
|
Vacterl Syndrome
|
Vertebral Anal Tracheoesophageal Esophageal Radial Anomalies
|
|
X-Linked Vacterl-H
|
Vacterl Association
|
|
Vacterl Association With Hydrocephalus
|
|
|
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital Heart Defects, Nonsyndromic, 1, X-Linked
|
Congenital Heart Defects, Multiple Types, 1, X-Linked
|
|
HTX1
|
Dextrocardia With Other Cardiac Malformations
|
|
Laterality, X-Linked
|
Situs Inversus, Complex Cardiac Defects, And Splenic Defects, X-Linked
|
|
CHTD1
|
X-Linked Congenital Heart Defects Nonsyndromic 1
|
|
X-Linked Congenital Heart Disease Nonsyndromic 1
|
Laterality X-Linked
|
|
Situs Inversus With Complex Cardiac Defects And Splenic Defects X-Linked
|
Heterotaxy, Visceral, X-Linked, Type 1
|
|
Heterotaxy Syndrome
|
|
|
| Vacterl Association With Hydrocephaly, X-Linked |
|
X-Linked Vacterl-H Syndrome
|
Vacterl Association With Hydrocephalus
|
|
|
| Visceral Heterotaxy |
|
Situs Ambiguus
|
Heterotaxia
|
|
Heterotaxy Syndrome
|
Heterotaxy
|
|
Lateralization Defect
|
Situs Ambiguous
|
|
Left Isomerism
|
Htx
|
|
Ivemark Syndrome
|
Right Isomerism
|
|
Situs Ambiguus Viscerum
|
Incomplete Situs Inversus
|
|
Partial Situs Inversus
|
Heterotaxy, Visceral
|
|
Asplenia Syndrome
|
Bilateral Left-Sidedness
|
|
Polysplenia Syndrome
|
Moller Syndrome
|
|
|
| Isolated Congenitally Uncorrected Transposition Of The Great Arteries |
|
Isolated Congenitally Uncorrected Transposition Of The Great Vessels
|
|
|
| Vacterl Association |
|
Vater Association
|
Vater Syndrome
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Acrorenal Syndrome |
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Double Outlet Right Ventricle |
|
Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
|
Taussig-Bing Syndrome
|
|
Dextrotransposition Of Aorta
|
Taussig-Bing Syndrome Or Defect
|
|
Dorv
|
Dorv With Subpulmonary Vsd
|
|
Dorv-Tga
|
Double Outlet Right Ventricle With Transposition Of The Great Arteries
|
|
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
|
Taussig-Bing Heart
|
|
Taussig-Bing Malformation
|
Taussig-Bing Complex
|
|
Taussig-Bing Defect
|
Taussig-Bing
|
|
Double Outlet Right Ventricle With Remote Ventricular Septal Defect
|
Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
|
|
Double Outlet Right Ventricle With Non-Committed Interventricular Communication
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
|
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
|
|
|
| Ventricular Septal Defect |
|
Ventricular Septal Defects
|
Interventricular Septal Defect
|
|
Heart Septal Defects, Ventricular
|
Ventricular Septal Abnormality
|
|
Interventricular Septum Defect
|
Ventricular Septum Defect
|
|
Vsd - [Ventricular Septum Defect]
|
Congenital Ventricular Septal Defect
|
|
Single Ventricular Septal Defect
|
|
|
| Optic Atrophy 4 |
|
|
| Situs Inversus |
|
Situs Inversus Viscerum
|
Laterality Sequence
|
|
Complete Transposition
|
Siv
|
|
|
| Right Atrial Isomerism |
|
Ivemark Syndrome
|
Asplenia With Cardiovascular Anomalies
|
|
RAI
|
Asplenia Syndrome
|
|
Asplenia
|
Right Isomerism
|
|
Splenic Agenesis Syndrome
|
Bilateral Right-Sidedness Sequence
|
|
Right Sided Atrial Isomerism
|
Isomerism Of Right Atrial Appendage
|
|
Heterotaxy, Visceroatrial, Autosomal Recessive
|
Polyasplenia
|
|
Vah, Autosomal Recessive
|
Atrial Isomerism, Right
|
|
Congenital Absence Of Spleen
|
Bilateral Right-Sidedness
|
|
|
| Total Anomalous Pulmonary Venous Return 1 |
|
Scimitar Syndrome
|
Total Anomalous Pulmonary Venous Return
|
|
Anomalous Pulmonary Venous Return
|
Scimitar Anomaly
|
|
TAPVR1
|
Apvr
|
|
Halasz Syndrome
|
Hypogenetic Lung Syndrome
|
|
Pulmonary Venolobar Syndrome
|
TAPVR
|
|
Congenital Total Pulmonary Venous Return Anomaly
|
Congenital Venolobar Syndrome
|
|
Mirror-Image Lung Syndrome
|
Vena Cava Bronchovascular Syndrome
|
|
Pulmonary Venous Return Anomaly
|
Congenital Pulmonary Venolobar Syndrome
|
|
Epibronchial Right Pulmonary Vein Syndrome
|
|
|
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition Of The Great Arteries
|
DTGA1
|
|
Dextro-Looped Transposition Of The Great Arteries
|
DTGA
|
|
Congenitally Uncorrected Transposition Of The Great Arteries
|
Congenitally Uncorrected Transposition Of The Great Vessels
|
|
D-Tga
|
Isolated Ventriculoarterial Discordance
|
|
Ventriculoarterial Discordance With Atrioventricular Concordance
|
Dextro-Transposition Of The Great Arteries
|
|
Transposition Of The Great Vessels
|
Great Vessels Transposition
|
|
Transposition Of The Great Arteries, Dextro-Looped 1
|
Arteries, Great, Transposition, Dextro-Looped
|
|
Ventriculoarterial Discordance, Isolated
|
D-Transposition Of The Great Arteries
|
|
Complete Transposition
|
Tga
|
|
Tgv
|
Transposition Of Great Vessels
|
|
Transposition Of The Great Arteries Dextro-Looped 1
|
Dextro-Looped Transposition Of The Great Arteries 1
|
|
Discordant Ventriculoarterial Connection
|
Complete Transposition Of Great Vessels
|
|
Great Vessels Complete Transposition
|
Total Great Vessel Transposition
|
|
Transposition Of Great Arteries
|
Complete Tga - [Transposition Of The Great Arteries]
|
|
Tga - [Transposition Of Great Arteries]
|
Tgv - [Transposition Of Great Vessels]
|
|
Transposition Of Great Vessels Nos
|
Transposed Vessels Nos
|
|
|
| Anus, Imperforate |
|
Imperforate Anus
|
Anorectal Malformation
|
|
Anal Atresia
|
Anorectal Malformations
|
|
Congenital Atresia Of Anus
|
Congenital Or Infantile Occlusion Of Anus
|
|
Anal Stenosis
|
Arm
|
|
|
| Hydronephrosis |
|
Stricture Of Ureteropelvic Junction With Hydronephrosis
|
Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
|
|
|
| Joubert Syndrome 18 |
|
JBTS18
|
Joubert Syndrome, Type 18
|
|
|
| Pulmonic Stenosis |
|
Valvular Pulmonic Stenosis
|
Congenital Pulmonary Valvar Stenosis
|
|
Congenital Stenosis Of Pulmonary Valve
|
Pulmonary Valve Stenosis
|
|
Pulmonary Stenosis
|
Congenital Pulmonary Valve Stricture
|
|
Congenital Pulmonary Valve Stenosis
|
|
|
| Dextrocardia |
|
Heart Predominantly In Right Hemithorax
|
Heart In Right Chest
|
|
Right-Sided Heart
|
Congenital Dextrocardia Of Heart
|
|
Transposition Of Heart
|
|
|
| Atrioventricular Septal Defect |
|
AVSD
|
Atrioventricular Canal Defect
|
|
Avcd
|
Endocardial Cushion Defect
|
|
Ecd
|
Avc Defect
|
|
Atrioventricular Septal Defect, Susceptibility To, 1
|
Atrioventricular Septal Defect 1
|
|
Endocardial Cushion Defects
|
Septal Defect, Atrioventricular
|
|
Atrioventricular Defect With Atrial Shunting Only
|
Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
|
|
Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
|
Primum Atrial Septal Defect
|
|
Partial Atrioventricular Canal Defect With Isolated Atrial Component
|
Partial Atrioventricular Septal Defect, Ostium Primum Type
|
|
Ostium Primum Atrial Septal Defect
|
Partial Atrioventricular Canal Defect
|
|
Partial Atrioventricular Septal Defect
|
Atrial Septum Primum Defect
|
|
Atrioventricular Canal Defect With Isolated Ventricular Component
|
Atrioventricular Canal Defect With Isolated Ventricular Communication
|
|
Atrioventricular Septal Defect With Isolated Ventricular Component
|
Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
|
|
Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
|
Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
|
|
Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
|
Intermediate Atrioventricular Canal Defect
|
|
Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
|
Intermediate Atrioventricular Septal Defect
|
|
Transitional Atrioventricular Canal Defect
|
Transitional Atrioventricular Septal Defect
|
|
Complete Atrioventricular Canal With Atrial And Ventricular Components
|
Complete Atrioventricular Canal Defect
|
|
Complete Atrioventricular Septal Defect
|
|
|
| Char Syndrome |
|
Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits
|
CHAR
|
|
|
| Duodenal Atresia |
|
Duodenal Stenosis
|
Familial Duodenal Atresia
|
|
|
| Tricuspid Atresia |
|
Congenital Agenesis Of The Tricuspid Valve
|
|
|
| Hydrocephalus |
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive
|
Hydrocephalus, X-Linked
|
|
Hydrocephalus Adverse Event
|
Hydrocephaly Nos
|
|
|
| Nephronophthisis 4 |
|
NPHP4
|
Juvenile Nephronophthisis 4
|
|
Nephronophthisis 4, Juvenile
|
Nephronophthisis, Type 4
|
|
|
| Heart Septal Defect |
|
Septal Defect
|
Heart Septal Defects
|
|
Cardiac Septal Defects
|
Congenital Septal Defect Of Heart
|
|
|
| Pancreas, Annular |
|
Annular Pancreas
|
Pancreas Annulare
|
|
Congenital Annular Pancreas
|
|
|
| Anus Disease |
|
Anal Fissure
|
Ulcer Of Anus
|
|
Anus Diseases
|
Anal Disease
|
|
Anal Fissure And Fistula
|
Anal Ulcer
|
|
Fissure In Ano
|
Nontraumatic Tear Of Anus
|
|
Solitary Anal Ulcer
|
Abnormality Of The Anus
|
|
Anal Disorders
|
Ulcer Of Anus And Rectum
|
|
Solitary Ulcer Of Anus
|
Stercoral Ulcer Of Anus
|
|
|
| Pulmonary Valve Stenosis |
|
Valvular Pulmonary Stenosis
|
Heart Valve Pulmonary Stenosis
|
|
Valvar Pulmonary Stenosis
|
Valvate Pulmonary Stenosis
|
|
Pulmonary Stenosis
|
Pulmonary Valve Stricture
|
|
Pulmonic Valve Stenosis
|
Ps - [Pulmonary Valve Stenosis]
|
|
Pvs - [Pulmonary Valve Stenosis]
|
Pulmonary Valvular Stricture
|
|
Pulmonary Valvular Stenosis
|
Pulmonary Valvular Obstruction
|
|
Pulmonary Valve Obstruction
|
Obstructed Pulmonary Valve
|
|
|
| Nephronophthisis 12 |
|
NPHP12
|
Joubert Syndrome 11
|
|
JBTS11
|
Nephronophthisis, Type 12
|
|
|
| Pulmonary Valve Disease |
|
|
| Patau Syndrome |
|
Trisomy 13
|
Complete Trisomy 13 Syndrome
|
|
Trisomy 13 Syndrome
|
D1 Trisomy
|
|
Patau'S Syndrome
|
Complete Trisomy 13
|
|
Chromosome 13, Trisomy 13 Complete
|
D Trisomy Syndrome
|
|
Bartholin-Patau Syndrome
|
Chromosome 13 Duplication
|
|
D1 Trisomy Syndrome
|
D>1< Trisomy Syndrome
|
|
Patau
|
Chromosome 13 Trisomy
|
|
Abnormal Autosomes 13
|
|
|
| Patent Ductus Arteriosus 1 |
|
Patent Ductus Arteriosus
|
PDA1
|
|
Pda
|
Ductus Arteriosus, Patent
|
|
Patent Ductus Arteriosus, Susceptibility To
|
Patent Ductus Botalli
|
|
Patency Of The Ductus Arteriosus
|
Patent Ductus Arteriosus Familial
|
|
Ductus Arteriosus Patent
|
Patent Ductus Arteriosus - Persisting Type
|
|
|
| Holt-Oram Syndrome |
|
HOS
|
Atriodigital Dysplasia
|
|
Heart-Hand Syndrome
|
Atrio-Digital Syndrome
|
|
Cardiac-Limb Syndrome
|
Heart-Hand Syndrome, Type 1
|
|
Ventriculo-Radial Syndrome
|
Hos1
|
|
Heart Hand Syndrome
|
Atrio Digital Syndrome
|
|
Hos 1
|
Atriodigital Dysplasia Type 1
|
|
Heart-Hand Syndrome Type 1
|
Holt Oram Syndrome
|
|
|
| Orofaciodigital Syndrome Viii |
|
Edwards Syndrome
|
Trisomy 18
|
|
Complete Trisomy 18 Syndrome
|
OFD8
|
|
Orofaciodigital Syndrome 8
|
Trisomy 18 Syndrome
|
|
Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis
|
E3 Trisomy
|
|
Oral-Facial-Digital Syndrome Type 8
|
Orofaciodigital Syndrome Type 8
|
|
Ofds Viii
|
Oral-Facial-Digital Syndrome, Type Viii
|
|
Ofd Syndrome 8
|
Ofds 8
|
|
Oral Facial Digital Syndrome 8
|
Oral Facial Digital Syndrome Type 8
|
|
18 Trisomy
|
Chromosome 18 Trisomy
|
|
Trisomy 16-18
|
Trisomy E
|
|
Trisomy E Syndrome
|
Chromosome 18 Duplication
|
|
Oral-Facial-Digital Syndrome, Edwards Type
|
Orofaciodigital Syndrome, Edwards Type
|
|
Chromosome 18, Trisomy
|
Cleft Lip/Palate With Abnormal Thumbs And Microcephaly
|
|
Trisomy 18 Chromosome
|
Abnormal Autosomes 18
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Hypoplastic Left Heart Syndrome |
|
Hlhs
|
Heart, Hypoplastic Left, Syndrome
|
|
Hypoplasia Of The Left Heart
|
Left Heart Hypoplasia Syndrome
|
|
Hlhs - [Hypoplastic Left Heart Syndrome]
|
Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
|
|
Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
|
Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
|
|
Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia
|
Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
|
|
Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
|
|
|
| Rectal Disease |
|
Rectal Diseases
|
Rectal Disorders
|
|
|
| Pallister-Hall Syndrome |
|
PHS
|
Hypothalamic Hamartomas
|
|
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly
|
Hypothalamic Hamartoblastoma Syndrome
|
|
Hamartoma Of The Hypothalamus
|
Pallister Hall Syndrome
|
|
Hall-Pallister Syndrome
|
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
|
|
Hamartoma, Hypothalamic
|
|
|
| Jacobsen Syndrome |
|
Chromosome 11q Deletion Syndrome
|
Partial 11q Monosomy Syndrome
|
|
Jacobsen Distal 11q Deletion Syndrome
|
JBS
|
|
11q Partial Monosomy Syndrome
|
Chromosome 11q Deletion
|
|
11q Deletion
|
11q Monosomy
|
|
Deletion 11q
|
Monosomy 11q
|
|
Partial Monosomy 11q
|
11q Deletion Disorder
|
|
11q Deletion Syndrome
|
11q Terminal Deletion Disorder
|
|
11q- Deletion Syndrome
|
11q23 Deletion Disorder
|
|
Jacobsen Thrombocytopenia
|
11q Terminal Deletion Syndrome
|
|
Del(11)(Q23.3)
|
Del(11)(Qter)
|
|
Distal Deletion 11q
|
Distal Monosomy 11q
|
|
Monosomy 11qter
|
Telomeric Deletion 11q
|
|
Paris-Trousseau Thrombocytopenia
|
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| Esophageal Atresia |
|
Tracheoesophageal Fistula
|
Congenital Atresia Of Esophagus
|
|
Congenital Imperforate Esophagus
|
Imperforate Esophagus
|
|
Oesophageal Atresia
|
Te Fistula
|
|
Tef
|
Tracheoesophageal Fistula With Or Without Esophageal Atresia
|
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Kabuki Syndrome 1 |
|
Kabuki Syndrome
|
Niikawa-Kuroki Syndrome
|
|
Kabuki Make-Up Syndrome
|
Kms
|
|
KABUK1
|
Kabuki Make Up Syndrome
|
|
Nks
|
Kabuki Makeup Syndrome
|
|
Kabuki Syndrome, Type 1
|
|
|
| Vesicoureteral Reflux |
|
|
| Primary Ciliary Dyskinesia |
|
Immotile Cilia Syndrome
|
Kartagener Syndrome
|
|
Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
|
Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
|
Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
|
Ics
|
Polynesian Bronchiectasis
|
|
Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
|
Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
|
Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
|
|
| Tetralogy Of Fallot |
|
TOF
|
Fallot Tetralogy
|
|
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
Tetrad Of Fallot
|
|
Fallot Tetrad
|
Fallot Disease
|
|
Fallot Complex
|
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
|
|
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
|
Interventricular Septal Defect, In Tetralogy Of Fallot
|
|
Ventricular Septal Defect With Obstructed Right Ventricular Outflow
|
Tof - [Tetralogy Of Fallot]
|
|
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
|
Pulmonary Atresia, Ventricular Septal Defect And Mapcas
|
|
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
|
Autosomal Dominant Opitz G/Bbb Syndrome
|
|
Catch22
|
Cayler Cardiofacial Syndrome
|
|
Conotruncal Anomaly Face Syndrome
|
Digeorge Syndrome
|
|
Sedlackova Syndrome
|
Shprintzen Syndrome
|
|
Velocardiofacial Syndrome
|
22q11.2 Distal Deletion Syndrome
|
|
Distal 22q11.2 Microdeletion Syndrome
|
22q11.2ds
|
|
Vcfs
|
Velo-Cardio-Facial Syndrome
|
|
Distal Chromosome 22q11.2 Deletion Syndrome
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Chromosome 22q11.2 Deletion Syndrome Distal
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Chromosome 22q11.2 Deletion Syndrome
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Deletion 22q11.2 Syndrome
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22q11ds
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Catch 22
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Digeorge Sequence
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Microdeletion 22q11.2
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Monosomy 22q11
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Takao Syndrome
|
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Distal Del(22)(Q11.2)
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Distal Monosomy 22q11.2
|
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Catch 22 Syndrome
|
Chromosome Deletion Syndrome 22q11.2, Distal
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| Rasopathy |
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Ras/Mitogen-Activated Protein Kinase Syndrome
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|
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| Patent Foramen Ovale |
|
Atrial Septal Defect Within Oval Fossa
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Foramen Ovale Patent
|
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Ostium Secundum Atrial Septal Defect
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Atrial Septal Defect, Ostium Secundum Type
|
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Foramen Ovale, Patent
|
Defect, Patent Or Persistent, Ostium Secundum
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Ostium Secundum Type Atrial Septal Defect
|
Persistent Ostium Secundum
|
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Asd Ostium Secundum Type
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Ostium Secundum Asd
|
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Osasd
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Asd, Ostium Secundum Type
|
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Pfo - [Patent Foramen Ovale]
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Open Foramen Ovale
|
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Open Oval Foramen
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Persistent Foramen Ovale
|
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Secundum Atrial Septal Defect
|
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| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
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Male Turner Syndrome
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Female Pseudo-Turner Syndrome
|
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Turner Phenotype With Normal Karyotype
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Noonan Syndrome With Pigmented Villonodular Synovitis
|
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Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
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Noonan'S Syndrome
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Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
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Turner Syndrome In Female With X Chromosome
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Turner-Like Syndrome
|
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Ullrich-Noonan Syndrome
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Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
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Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
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Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| Williams-Beuren Syndrome |
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Williams Syndrome
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WBS
|
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Wms
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Deletion 7q11.23
|
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Monosomy 7q11.23
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Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
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Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
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Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
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Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
|
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