Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Categorical breakdown of terms falling inder the category of Congenital, Hereditary, and Neonatal Diseases and Abnormalities. Sub categories will become more specific in nature to the terms listed for Congenital, Hereditary, and Neonatal Diseases and Abnormalities.
Sub-Categories
- Congenital Abnormalities
- Abnormalities, Drug-Induced
- Abnormalities, Multiple
- Alagille Syndrome
- Alstrom Syndrome
- Angelman Syndrome
- Bardet-Biedl Syndrome
- Barth Syndrome
- Basal Cell Nevus Syndrome
- Beckwith-Wiedemann Syndrome
- Bloom Syndrome
- Branchio-Oto-Renal Syndrome
- Carney Complex
- Cockayne Syndrome
- Costello Syndrome
- Cri-du-Chat Syndrome
- De Lange Syndrome
- Deaf-Blind Disorders
- Donohue Syndrome
- Down Syndrome
- Ectodermal Dysplasia
- Gardner Syndrome
- Holoprosencephaly
- Incontinentia Pigmenti
- Isolated Noncompaction of the Ventricular Myocardium
- Laurence-Moon Syndrome
- LEOPARD Syndrome
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Mobius Syndrome
- Monilethrix
- Nail-Patella Syndrome
- Netherton Syndrome
- Nevus, Sebaceous of Jadassohn
- Oculocerebrorenal Syndrome
- Orofaciodigital Syndromes
- Pallister-Hall Syndrome
- POEMS Syndrome
- Prader-Willi Syndrome
- Prolidase Deficiency
- Proteus Syndrome
- Prune Belly Syndrome
- Rubella Syndrome, Congenital
- Rubinstein-Taybi Syndrome
- Short Rib-Polydactyly Syndrome
- Silver-Russell Syndrome
- Smith-Lemli-Opitz Syndrome
- Trichothiodystrophy Syndromes
- Waardenburg's Syndrome
- Weill-Marchesani Syndrome
- Wolf-Hirschhorn Syndrome
- Wolfram Syndrome
- Zellweger Syndrome
- Abnormalities, Radiation-Induced
- Cardiovascular Abnormalities
- Heart Defects, Congenital
- Alagille Syndrome
- Aortic Coarctation
- Arrhythmogenic Right Ventricular Dysplasia
- Barth Syndrome
- Cor Triatriatum
- Coronary Vessel Anomalies
- Crisscross Heart
- Dextrocardia
- Ductus Arteriosus, Patent
- Ebstein Anomaly
- Ectopia Cordis
- Eisenmenger Complex
- Heart Septal Defects
- Hypoplastic Left Heart Syndrome
- Isolated Noncompaction of the Ventricular Myocardium
- LEOPARD Syndrome
- Levocardia
- Long QT Syndrome
- Marfan Syndrome
- Tetralogy of Fallot
- Transposition of Great Vessels
- Tricuspid Atresia
- Trilogy of Fallot
- Wolff-Parkinson-White Syndrome
- Vascular Malformations
- Heart Defects, Congenital
- Chromosome Disorders
- Angelman Syndrome
- Beckwith-Wiedemann Syndrome
- Branchio-Oto-Renal Syndrome
- Cri-du-Chat Syndrome
- De Lange Syndrome
- Down Syndrome
- Holoprosencephaly
- Jacobsen Distal 11q Deletion Syndrome
- Prader-Willi Syndrome
- Rubinstein-Taybi Syndrome
- Sex Chromosome Disorders
- Silver-Russell Syndrome
- WAGR Syndrome
- Williams Syndrome
- Wolf-Hirschhorn Syndrome
- DiGeorge Syndrome
- Digestive System Abnormalities
- Eye Abnormalities
- Lymphatic Abnormalities
- Musculoskeletal Abnormalities
- Arthrogryposis
- Campomelic Dysplasia
- Cervical Rib Syndrome
- Craniofacial Abnormalities
- Funnel Chest
- Gastroschisis
- Hajdu-Cheney Syndrome
- Hip Dislocation, Congenital
- Klippel-Feil Syndrome
- Laryngomalacia
- Limb Deformities, Congenital
- Synostosis
- Tracheobronchomalacia
- Nervous System Malformations
- Acrocallosal Syndrome
- Central Nervous System Cysts
- Central Nervous System Vascular Malformations
- Dandy-Walker Syndrome
- Hereditary Sensory and Motor Neuropathy
- Hereditary Sensory and Autonomic Neuropathies
- Holoprosencephaly
- Hydranencephaly
- Malformations of Cortical Development
- Neural Tube Defects
- Septo-Optic Dysplasia
- Respiratory System Abnormalities
- Situs Inversus
- Skin Abnormalities
- Acrodermatitis
- Carney Complex
- Dyskeratosis Congenita
- Ectodermal Dysplasia
- Ehlers-Danlos Syndrome
- Epidermolysis Bullosa
- Ichthyosis
- Incontinentia Pigmenti
- Port-Wine Stain
- Prolidase Deficiency
- Pseudoxanthoma Elasticum
- Rothmund-Thomson Syndrome
- Sclerema Neonatorum
- Trichothiodystrophy Syndromes
- Xeroderma Pigmentosum
- Stomatognathic System Abnormalities
- Abnormalities, Severe Teratoid
- Thyroid Dysgenesis
- Urogenital Abnormalities
- Fetal Diseases
- Genetic Diseases, Inborn
- Adrenal Hyperplasia, Congenital
- Alagille Syndrome
- Anemia, Hemolytic, Congenital
- Anemia, Hypoplastic, Congenital
- Angioedemas, Hereditary
- Ataxia Telangiectasia
- Autoimmune Lymphoproliferative Syndrome
- Blood Coagulation Disorders, Inherited
- Activated Protein C Resistance
- Afibrinogenemia
- Antithrombin III Deficiency
- Bernard-Soulier Syndrome
- Factor V Deficiency
- Factor VII Deficiency
- Factor X Deficiency
- Factor XI Deficiency
- Factor XII Deficiency
- Factor XIII Deficiency
- Gray Platelet Syndrome
- Hemophilia A
- Hemophilia B
- Hermanski-Pudlak Syndrome
- Hypoprothrombinemias
- Protein C Deficiency
- Thrombasthenia
- von Willebrand Diseases
- Wiskott-Aldrich Syndrome
- Brugada Syndrome
- CADASIL
- Camurati-Engelmann Syndrome
- Cardiomyopathy, Hypertrophic, Familial
- Cherubism
- Chromosome Disorders
- Angelman Syndrome
- Beckwith-Wiedemann Syndrome
- Branchio-Oto-Renal Syndrome
- Cri-du-Chat Syndrome
- De Lange Syndrome
- Down Syndrome
- Holoprosencephaly
- Jacobsen Distal 11q Deletion Syndrome
- Prader-Willi Syndrome
- Rubinstein-Taybi Syndrome
- Sex Chromosome Disorders
- Silver-Russell Syndrome
- WAGR Syndrome
- Williams Syndrome
- Wolf-Hirschhorn Syndrome
- Costello Syndrome
- Cystic Fibrosis
- Donohue Syndrome
- Dwarfism
- Eye Diseases, Hereditary
- Genetic Diseases, X-Linked
- Androgen-Insensitivity Syndrome
- Barth Syndrome
- Bulbo-Spinal Atrophy, X-Linked
- Choroideremia
- Dyskeratosis Congenita
- Ectodermal Dysplasia 1, Anhidrotic
- Fabry Disease
- Focal Dermal Hypoplasia
- Glycogen Storage Disease Type IIb
- Glycogen Storage Disease Type VIII
- Granulomatous Disease, Chronic
- Hemophilia B
- Hyper-IgM Immunodeficiency Syndrome, Type 1
- Hypophosphatemic Rickets, X-Linked Dominant
- Ichthyosis, X-Linked
- Isolated Noncompaction of the Ventricular Myocardium
- Mental Retardation, X-Linked
- Muscular Dystrophy, Duchenne
- Muscular Dystrophy, Emery-Dreifuss
- Oculocerebrorenal Syndrome
- Ornithine Carbamoyltransferase Deficiency Disease
- Pelizaeus-Merzbacher Disease
- Wiskott-Aldrich Syndrome
- X-Linked Combined Immunodeficiency Diseases
- Genetic Diseases, Y-Linked
- Hajdu-Cheney Syndrome
- Hemoglobinopathies
- Hereditary Autoinflammatory Diseases
- Heredodegenerative Disorders, Nervous System
- Alexander Disease
- Amyloid Neuropathies, Familial
- Canavan Disease
- Cockayne Syndrome
- Dystonia Musculorum Deformans
- Gerstmann-Straussler-Scheinker Disease
- Hepatolenticular Degeneration
- Hereditary Central Nervous System Demyelinating Diseases
- Hereditary Sensory and Motor Neuropathy
- Pantothenate Kinase-Associated Neurodegeneration
- Hereditary Sensory and Autonomic Neuropathies
- Huntington Disease
- Lafora Disease
- Lesch-Nyhan Syndrome
- Menkes Kinky Hair Syndrome
- Mental Retardation, X-Linked
- Myotonia Congenita
- Myotonic Dystrophy
- Neuroacanthocytosis
- Neurofibromatoses
- Neuronal Ceroid-Lipofuscinoses
- Optic Atrophies, Hereditary
- Rett Syndrome
- Spinal Muscular Atrophies of Childhood
- Spinocerebellar Degenerations
- Tourette Syndrome
- Tuberous Sclerosis
- Unverricht-Lundborg Syndrome
- Hyperthyroxinemia, Familial Dysalbuminemic
- Kallmann Syndrome
- Kartagener Syndrome
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Metabolism, Inborn Errors
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Transport Disorders, Inborn
- Amyloidosis, Familial
- Brain Diseases, Metabolic, Inborn
- Cerebral Amyloid Angiopathy, Familial
- Galactosemias
- Hartnup Disease
- Hepatolenticular Degeneration
- Homocystinuria
- Hyperglycinemia, Nonketotic
- Hyperlysinemias
- Leigh Disease
- Lesch-Nyhan Syndrome
- Lysosomal Storage Diseases, Nervous System
- Maple Syrup Urine Disease
- MELAS Syndrome
- Menkes Kinky Hair Syndrome
- MERRF Syndrome
- Oculocerebrorenal Syndrome
- Peroxisomal Disorders
- Phenylketonurias
- Pyruvate Carboxylase Deficiency Disease
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Tyrosinemias
- Urea Cycle Disorders, Inborn
- Carbohydrate Metabolism, Inborn Errors
- Carbohydrate-Deficient Glycoprotein Syndrome
- Fructose Metabolism, Inborn Errors
- Fucosidosis
- Galactosemias
- Glucosephosphate Dehydrogenase Deficiency
- Glycogen Storage Disease
- Hyperoxaluria, Primary
- Lactose Intolerance
- Mannosidase Deficiency Diseases
- Mucolipidoses
- Mucopolysaccharidoses
- Multiple Carboxylase Deficiency
- Pyruvate Metabolism, Inborn Errors
- Cytochrome-c Oxidase Deficiency
- Hyperbilirubinemia, Hereditary
- Lipid Metabolism, Inborn Errors
- Barth Syndrome
- Hyperlipidemia, Familial Combined
- Hyperlipoproteinemia Type I
- Hyperlipoproteinemia Type II
- Hyperlipoproteinemia Type III
- Hyperlipoproteinemia Type IV
- Hyperlipoproteinemia Type V
- Hypolipoproteinemias
- Lipidoses
- Smith-Lemli-Opitz Syndrome
- Xanthomatosis, Cerebrotendinous
- Lysosomal Storage Diseases
- Aspartylglucosaminuria
- Cholesterol Ester Storage Disease
- Cystinosis
- Lysosomal Storage Diseases, Nervous System
- Mannosidase Deficiency Diseases
- Mucopolysaccharidoses
- Metal Metabolism, Inborn Errors
- Peroxisomal Disorders
- Porphyrias
- Progeria
- Purine-Pyrimidine Metabolism, Inborn Errors
- Renal Tubular Transport, Inborn Errors
- Steroid Metabolism, Inborn Errors
- Muscular Dystrophies
- Myasthenic Syndromes, Congenital
- Nail-Patella Syndrome
- Neoplastic Syndromes, Hereditary
- Osteogenesis Imperfecta
- Pain Insensitivity, Congenital
- Skin Diseases, Genetic
- Albinism
- Cutis Laxa
- Darier Disease
- Dermatitis, Atopic
- Dyskeratosis Congenita
- Ectodermal Dysplasia
- Ehlers-Danlos Syndrome
- Epidermolysis Bullosa
- Erythrokeratodermia Variabilis
- Ichthyosiform Erythroderma, Congenital
- Ichthyosis Bullosa of Siemens
- Ichthyosis Vulgaris
- Ichthyosis, X-Linked
- Incontinentia Pigmenti
- Keratoderma, Palmoplantar
- Leukokeratosis, Hereditary Mucosal
- Lipoid Proteinosis of Urbach and Wiethe
- Monilethrix
- Netherton Syndrome
- Pemphigus, Benign Familial
- Porokeratosis
- Porphyria, Erythropoietic
- Porphyrias, Hepatic
- Prolidase Deficiency
- Pseudoxanthoma Elasticum
- Rothmund-Thomson Syndrome
- Sjogren-Larsson Syndrome
- Trichothiodystrophy Syndromes
- Xeroderma Pigmentosum
- Weill-Marchesani Syndrome
- Werner Syndrome
- Yellow Nail Syndrome
- Infant, Newborn, Diseases
- Amniotic Band Syndrome
- Anemia, Neonatal
- Asphyxia Neonatorum
- Birth Injuries
- Cystic Fibrosis
- Epilepsy, Benign Neonatal
- Erythroblastosis, Fetal
- Hernia, Umbilical
- Vitamin K Deficiency Bleeding
- Hydrocephalus
- Hydrophthalmos
- Hyperbilirubinemia, Neonatal
- Hyperostosis, Cortical, Congenital
- Ichthyosis
- Infant, Premature, Diseases
- Meconium Aspiration Syndrome
- Mobius Syndrome
- Neonatal Abstinence Syndrome
- Nystagmus, Congenital
- Ophthalmia Neonatorum
- Persistent Fetal Circulation Syndrome
- Persistent Hyperinsulinemia Hypoglycemia of Infancy
- Rothmund-Thomson Syndrome
- Sclerema Neonatorum
- Severe Combined Immunodeficiency
- Syphilis, Congenital
- Thanatophoric Dysplasia
- Thrombocytopenia, Neonatal Alloimmune
- Toxoplasmosis, Congenital
- Wolman Disease
Common Chronic Illnesses
Coronary Disease
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Diabetes Mellitus, Type 1
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
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Diabetes Mellitus, Type 2
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
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Hypertension
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Mesothelioma
A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)
Osteoarthritis
A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.