| Diseases |
Alias |
|
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Small Patella Syndrome
|
Ischiopatellar Dysplasia
|
|
Coxopodopatellar Syndrome
|
Scott-Taor Syndrome
|
|
Sps
|
Ischiocoxopodopatellar Syndrome
|
|
Patella Aplasia, Coxa Vara, And Tarsal Synostosis
|
ICPPS
|
|
Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis
|
Coxo-Podo-Patellar Syndrome
|
|
Patella Aplasia, Coxa Vara, Tarsal Synostosis
|
Coxopodipatellar Syndrome
|
|
|
| Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome |
|
Autosomal Recessive Amelia
|
PAPPAS
|
|
Amelia, Autosomal Recessive
|
|
|
| Sacral Defect With Anterior Meningocele |
|
Caudal Regression Syndrome
|
Caudal Regression Sequence
|
|
Sacral Agenesis
|
Caudal Dysgenesis Syndrome
|
|
SDAM
|
Caudal Dysplasia Sequence
|
|
Caudal Dysplasia
|
Sacral Agenesis Syndrome
|
|
Sacral Regression Syndrome
|
Sacral Defect And Anterior Sacral Meningocele
|
|
Rudd Klimek Syndrome
|
Sirenomelia
|
|
|
| Hydronephrosis |
|
Stricture Of Ureteropelvic Junction With Hydronephrosis
|
Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
|
|
|
| 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
|
|
|
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary Arterial Hypertension
|
Pah
|
|
Idiopathic Pulmonary Arterial Hypertension
|
Idiopathic Pulmonary Hypertension
|
|
Primary Pulmonary Hypertension
|
PPH1
|
|
Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated
|
Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht
|
|
Pph
|
Familial Primary Pulmonary Hypertension
|
|
Sporadic Primary Pulmonary Hypertension
|
Pht
|
|
Fpah
|
Familial Pulmonary Arterial Hypertension
|
|
Hereditary Pulmonary Arterial Hypertension
|
Heritable Pulmonary Arterial Hypertension
|
|
Ayerza Syndrome
|
Fpph
|
|
Ppht
|
Ipah
|
|
Primary Pulmonary Arterial Hypertension
|
Pulmonary Hypertension, Familial Primary
|
|
Hypertension, Pulmonary, Primary, Type 1
|
Ayerza'S Syndrome
|
|
Pah - [Pulmonary Arterial Hypertension]
|
Arrillaga Ayerza Syndrome
|
|
|
| Heritable Pulmonary Arterial Hypertension |
|
Fpah
|
Familial Pulmonary Arterial Hypertension
|
|
Hpah
|
Hereditary Pulmonary Arterial Hypertension
|
|
Familial Primary Pulmonary Hypertension
|
|
|
| Chromosome 17q23.1-Q23.2 Deletion Syndrome |
|
17q23.1q23.2 Microdeletion Syndrome
|
17q23.1-Q23.2 Microdeletion Syndrome
|
|
Del(17)(Q23.1q23.2)
|
Monosomy 17q23.1q23.2
|
|
Monosomy 17q23.1-Q23.2
|
|
|
| Pulmonary Hypoplasia, Primary |
|
Pulmonary Agenesis
|
Lung Agenesis
|
|
Primary Pulmonary Hypoplasia
|
Congenital Absence Of Lung
|
|
Congenital Lung Agenesis
|
Unilateral Lobar Pulmonary Agenesis
|
|
Unilateral Lung Agenesis
|
Absence Of Lung
|
|
Aplasia Of Lung
|
Apulmonism
|
|
Congenital Aplasia Of Lung
|
Agenesis Of Lobe Of Lung
|
|
Absence Of Lobe Of Lung
|
Congenital Absence Of Lobe Of Lung
|
|
|
| Pulmonary Hypoplasia, Familial Primary |
|
Familial Primary Pulmonary Hypoplasia
|
|
|
| Chromosome 17q23.1-Q23.2 Duplication Syndrome |
|
Familial Clubfoot Due To 17q23.1q23.2 Microduplication
|
Hereditary Clubfoot Due To 17q23.1-Q23.2 Microduplication
|
|
|
| Amelia |
|
|
| Pulmonary Arterial Hypertension Associated With Congenital Heart Disease |
|
Pah Associated With Congenital Heart Disease
|
|
|
| Campomelic Dysplasia |
|
Acampomelic Campomelic Dysplasia
|
Camptomelic Dysplasia
|
|
Campomelic Dysplasia With Autosomal Sex Reversal
|
Cmpd
|
|
CMD1
|
Cmpd1
|
|
Cmpd1/Sra1
|
Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
|
|
Campomelic Dwarfism
|
Campomelic Syndrome
|
|
Dysplasia, Campomelic
|
Chronic Myeloproliferative Disorder
|
|
Familial Dilated Cardiomyopathy
|
|
|
| Tracheomalacia |
|
Congenital Tracheomalacia
|
Congenital Major Airway Collapse
|
|
Tracheomalacia, Congenital
|
Type 1 Tracheomalacia
|
|
|
| Tracheal Disease |
|
Tracheal Diseases
|
Tracheal Anomaly
|
|
Tracheal Disorders
|
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
|
Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| Exudative Vitreoretinopathy 7 |
|
EVR7
|
Vitreoretinopathy, Exudative 7
|
|
Vitreoretinopathy Exudative, Type 7
|
|
|
| Lipid Pneumonia |
|
Exogenous Lipoid Pneumonia
|
Lipoid Pneumonitis
|
|
Pneumonia, Lipid
|
Pneumonia Lipid
|
|
Lipoid Pneumonia
|
|
|
| Pulmonary Venoocclusive Disease |
|
Pulmonary Veno-Occlusive Disease
|
Obstructive Disease Of The Pulmonary Veins
|
|
Pvod
|
Isolated Pulmonary Venous Sclerosis
|
|
Venous Form Of Primary Pulmonary Hypertension
|
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
|
|
|
| Ulnar-Mammary Syndrome |
|
Schinzel Syndrome
|
UMS
|
|
Pallister Ulnar-Mammary Syndrome
|
Ulnar-Mammary Syndrome Of Pallister
|
|
|
| Pulmonary Hypertension |
|
Primary Pulmonary Hypertension
|
Hypertension Pulmonary
|
|
Hypertension, Pulmonary
|
Hypertension, Pulmonary, Primary
|
|
Idiopathic Pulmonary Hypertension
|
Idiopathic Pulmonary Arterial Hypertension
|
|
Pulmonary Htn - [Hypertension]
|
|
|
| Lacrimoauriculodentodigital Syndrome |
|
Ladd Syndrome
|
Levy-Hollister Syndrome
|
|
Lacrimo-Auriculo-Dento-Digital Syndrome
|
LADD
|
|
Lacrimoauriculodento-Digital Syndrome
|
Levy Hollister Syndrome
|
|
Lard Syndrome
|
Lacrimoauriculoradiodental Syndrome
|
|
LADDS
|
Congenital Duodenal Obstruction Due To Malrotation Of Intestine
|
|
|
| Tracheal Stenosis |
|
|
| Neonatal Respiratory Failure |
|
Respiratory Failure Of Newborn
|
Inadequate Pulmonary Ventilation Of Newborn
|
|
Newborn Lung Insufficiency
|
Newborn Pulmonary Function Inadequate
|
|
Newborn Pulmonary Insufficiency
|
Newborn Respiration Failure
|
|
Newborn Respiratory Insufficiency
|
Respiratory Insufficiency Syndrome Of Newborn
|
|
|
| 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
|
|
|
| Vertical Talus, Congenital |
|
Congenital Vertical Talus
|
CVT
|
|
Congenital Convex Pes Valgus
|
Rocker-Bottom Foot Deformity
|
|
Vertical Talus
|
Pes Valgus, Congenital Convex
|
|
Congenital Convex Foot
|
Congenital Rocker-Bottom Foot
|
|
Rocker Bottom Foot
|
Flatfoot
|
|
Rocker-Bottom Foot
|
Charcot-Marie-Tooth Disease, Foot Deformity Of
|
|
|
| Aplasia Of Lacrimal And Salivary Glands |
|
ALSG
|
Congenital Absence Of Lacrimal Puncta And Salivary Glands
|
|
Xerostomia
|
Absence Of Salivary Glands
|
|
Parotid Aplasia Or Hypoplasia
|
Congenital Absence Of Lacrimal Puncta Or Salivary Glands
|
|
Alsg - [Aplasia Of Lacrimal Or Salivary Glands]
|
|
|
| Pulmonary Interstitial Emphysema |
|
|
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Osmed
|
Otospondylomegaepiphyseal Dysplasia
|
|
Chondrodystrophy With Sensorineural Deafness
|
Nance-Insley Syndrome
|
|
Nance-Sweeney Chondrodysplasia
|
OSMEDB
|
|
Insley-Astley Syndrome
|
Osmed Syndrome
|
|
Mega-Epiphyseal Dwarfism
|
Weissenbacher-Zweymuller Syndrome, Formerly
|
|
Wzs, Formerly
|
Nance Sweeney Chondrodysplasia
|
|
Oto-Spondylo-Mega-Epiphyseal Dysplasia
|
Oto-Spondylo-Megaepiphyseal Dysplasia
|
|
Megaepiphyseal Dwarfism
|
|
|
| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
| Arthrogryposis, Distal, Type 10 |
|
DA10
|
Distal Arthrogryposis Type 10
|
|
Short Achilles Tendon
|
Plantar Flexion Contracture
|
|
Short Tendo Calcaneus
|
Congenital Plantar Contractures
|
|
Tendo Calcaneus, Short
|
|
|
| Aspiration Pneumonitis |
|
Chemical Pneumonitis
|
Mendelson'S Syndrome
|
|
Aspiration Pneumonia
|
Pneumonitis Due To Fumes And/Or Vapors
|
|
Toxic Pneumonitis
|
Mendelson'S Syndrome Resulting From A Procedure
|
|
Mendelson Syndrome Resulting From A Procedure
|
Pulmonary Acid Aspiration Syndrome
|
|
Pneumonitis Due To Inhalation Of Gastric Secretions
|
Mendelson Syndrome Due To Anaesthesia During Labour And Delivery
|
|
Inhalation Of Stomach Contents Or Secretions, Nos Due To Anaesthesia During Labour And Delivery
|
|
|
| Bone Development Disease |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
Rendu-Osler-Weber Disease
|
Hht
|
|
Osler-Weber-Rendu Disease
|
Telangiectasia, Hereditary Hemorrhagic
|
|
Osler Hemorrhagic Telangiectasia Syndrome
|
Orw Disease
|
|
Osler Weber Rendu Syndrome
|
Osler-Rendu-Weber Disease
|
|
Osler-Weber-Rendu Syndrome
|
Rendu-Osler Disease
|
|
Telangiectasia Hereditary Hemorrhagic
|
Telangiectasia Hemorrhagic, Hereditary
|
|
Hht - [Hereditary Haemorrhagic Telangiectasia]
|
Osler Haemorrhagic Telangiectasia Syndrome
|
|
|
| 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
|
|
|
| Diaphragmatic Hernia, Congenital |
|
Congenital Diaphragmatic Hernia
|
Diaphragmatic Hernia
|
|
Cdh
|
Congenital Diaphragmatic Defect
|
|
Hernia, Diaphragmatic
|
Dih
|
|
Hernia, Congenital Diaphragmatic
|
Hcd
|
|
Diaphragmatic Defect, Congenital
|
Diaphragm, Unilateral Agenesis Of
|
|
Hemidiaphragm, Agenesis Of
|
Diaphragmatic Hernia 1
|
|
Agenesis Of Hemidiaphragm
|
Unilateral Agenesis Of Diaphragm
|
|
Hernia Diaphragmatic
|
Hernia Diaphragmatic Congenital
|
|
Hernia, Diaphragmatic, Type 1
|
Hiatus Hernia
|
|
Oesophageal Hiatus Hernia
|
Paraoesophageal Hernia
|
|
Sliding Hiatus Hernia
|
Congenital Diaphragm Hernia
|
|
Congenital Diaphragm Defect With Hernia
|
Gross Congenital Diaphragm Defect
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| 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
|
|
|
| Patent Foramen Ovale |
|
Atrial Septal Defect Within Oval Fossa
|
Foramen Ovale Patent
|
|
Ostium Secundum Atrial Septal Defect
|
Atrial Septal Defect, Ostium Secundum Type
|
|
Foramen Ovale, Patent
|
Defect, Patent Or Persistent, Ostium Secundum
|
|
Ostium Secundum Type Atrial Septal Defect
|
Persistent Ostium Secundum
|
|
Asd Ostium Secundum Type
|
Ostium Secundum Asd
|
|
Osasd
|
Asd, Ostium Secundum Type
|
|
Pfo - [Patent Foramen Ovale]
|
Open Foramen Ovale
|
|
Open Oval Foramen
|
Persistent Foramen Ovale
|
|
Secundum Atrial Septal Defect
|
|
|
