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			MedGen







Heart Disease
  
Coronary heart diseaseCardiac arrest
An imbalance between myocardial functional requirementsAn abrupt loss of heart function.
CardiomyopathyCongestive heart failure
A disease of the heart muscle or myocardium proper.Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues






Heart Block
Heart blockCongenital heart block
Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.Congenital complete heart block
Atrioventricular blockProgressive familial heart block
An electrocardiographic finding of delayed or blocked cardiac electrical impulseFamilial progressive cardiac conduction defect






Ventricles of the Heart
Left ventricular hypertrophyRight ventricular hypertrophy
Enlargement of the Left Ventricle of the heart.Enlargement of the Right Ventricle of the heart.
Left ventricular failureRight ventricular cardiomyopathy
Impaired left ventricular function, Left ventricular impairment, Left-sided heart failureRight ventricular dysfunction (global or regional)






Ventricular Rhythm
Ventricular fibrillationVentricular fibrillation, familial 2
A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythmVF2
Ventricular arrhythmiaSupraventricular arrhythmia
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythmA type of arrhythmia that originates above the ventricles






Thorax
Abnormality of the thoraxAsymmetry of the thorax
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).Lack of symmetry between the left and right halves of the thorax.
Long thoraxBell-shaped thorax
Increased inferior to superior extent of the thorax.Bell-shaped chest






Abdomen
Abdominal distentionHernia
Abdominal swelling, Belly bloating, Bloating: Distention of the abdomen.Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained.
Hernia of the abdominal wallAbdominal wall muscle weakness
Herniated abdominal wall: The presence of a hernia in the abdominal wall.Lax abdominal musculature: Decreased strength of the abdominal musculature.






Breast [video]
Breast adenocarcinomaBreast cancer, susceptibility to
The most common histologic type of breast carcinoma.Susceptibility to breast cancer
Breast aplasiaBreast hypoplasia
Failure to develop and congenital absence of the breast.Underdevelopment of the breast.






Ovary [video]
Ovarian cystOvarian cancer
A cyst that arises from the ovary.Ovarian carcinoma
Ovarian epithelial cancerOvarian papillary adenocarcinoma
A malignant neoplasm originating from the surface ovarian epithelium.The presence of a papillary adenocarcinoma of the ovary.






Pancreas
Pancreatic cystsPancreatic calcification
A cyst of the pancreas that possess a lining of mucous epithelium.The presence of abnormal calcium deposition lesions in the pancreas.
Pancreatic adenocarcinomaPancreatic squamous cell carcinoma
An adenocarcinoma which arises from the exocrine pancreas.A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.






Insulin Resistance
Insulin resistanceInsulin-resistant diabetes mellitus
Decreased sensitivity to circulating insulinA type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin
Insulin insensitivityInsulinoma
Decreased sensitivity toward insulin.A benign tumor of the Pancreatic Beta Cells.






Growth Hormone
Growth hormone deficiencyGrowth hormone excess
Growth Hormone Deficiency, IGHDAcral hypertrophy, Acromegalic growth, Acromegaly
Growth delayGrowth hormone insensitivity with immunodeficiency
A deficiency or slowing down of growth pre-and postnatally.Growth hormone insensitivity due to postreceptor defect






Thalassemia
Alpha trait thalassemiaBeta thalassemia intermedia
A condition in which a person has reduced protein production from two of the four alpha-globin alleles.BTHAL-ITMD, Thalassemia intermedia
Delta-beta thalassemiaThalassemia intermedia
Delta-Beta ThalassemiaThalassemia Intermedias






Iron Metabolism
Abnormality of iron homeostasisIron overload, autosomal dominant
An abnormality of the homeostasis (concentration) of iron cation.Iron overload, autosomal dominant
Iron deficiency anemiaIron accumulation in brain
Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.An abnormal build up of iron (Fe) in brain tissue.






Immunodeficiency
Combined immunodeficiencyImmunodeficiency
A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response.Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Severe combined immunodeficiency diseaseCellular immunodeficiency
Bubble boy disease, SCID, Severe combined immunodeficiency, Severe combined immunodeficiency due to adenosine deaminase deficiencyAn immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.






T-cell Lymphoma & Leukemia [video]
T-cell lymphomaT-cell lymphoma/leukemia
A group of heterogeneous lymphoid tumorsA type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia)
T-cell prolymphocytic leukemiaT-cell acute lymphoblastic leukemia
A lymphoid leukemia characterized by a profound LymphocytosisSusceptibility to T-cell acute lymphoblastic leukemia






Decreased T-cells
Decrease in T-cell countDecreased T-cell activation
Decrease in T cell number, Decreased numbers of circulating T cellsDecreased T-lymphocyte activation, Defective T cell activation
Defective T-cell proliferationDecreased number of CD4+ T-cells
A reduced ability of a T cell population to expand by cell division following T cell activation.Abnormality of CD4+ T cells, CD4 T cell lymphopenia, CD4+ T-cell lymphopenia






Thyroid
ThyroiditisThyroid adenoma
Thyroid gland inflammationA benign, encapsulated tumor, arising from the follicular cells of the thyroid gland.
Thyroid carcinomaThyroid hypoplasia
A carcinoma arising from the thyroid gland.Developmental hypoplasia of the thyroid gland.






Vision
MyopiaSevere Myopia
Near sightednessSevere near sightedness
Blurred visionAbnormality of color vision
Blurred vision is the loss of visual acuity (sharpness of vision)An anomaly in the ability to discriminate between or recognize colors.






Cornea
Corneal dystrophyCorneal erosion
An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.An erosion or abrasion of the cornea's outermost layer of epithelial cells.
Corneal neovascularizationCorneal opacity
Ingrowth of new blood vessels into the cornea.A reduction of corneal clarity.






Glaucoma
Glaucoma 1, open angle, OGlaucoma 1, open angle, M
GLC1OGLC1M
Glaucoma 1, open angle, FGlaucoma 1, open angle, G
GLC1FGLC1G






Retina [video]
Retinal atrophyRetinal calcification
Well-demarcated area(s) of partial or complete depigmentation in the fundusDeposition of calcium salts in the retina.
Retinal degenerationRetinal dysplasia
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.Congenital, often bilateral, retinal abnormality






Macula [video]
Juvenile macular degeneration and hypotrichosisAge-related macular degeneration
Hypotrichosis, congenital, with juvenile macular dystrophyAMD, ARMD, Macular Degeneration: Senile macular degeneration
Macular degenerationAge-related macular degeneration 10
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cellsAge-related macular degeneration 10, ARMD10






Optic Disc
Optic disc drusenCavitary optic disc anomalies
Optic disc drusen are acellular, calcified deposits within the optic nerve head.Cavitary optic disc anomaly, CODA
Optic disc pallorNonarteritic anterior ischemic optic neuropathy
A pale yellow discoloration of the optic diskAn acute condition characterized by sudden visual loss






Optic Nerve
Optic nerve hypoplasiaOptic neuropathy
A congenital abnormality characterized by the underdevelopment of the optic nerve.Damage to the optic nerve.
Optic nerve dysplasiaOptic nerve glioma
The presence of developmental dysplasia of the optic nerve.A glioma originating in the optic nerve or optic chiasm.






Respiration
Respiratory insufficiencyRespiratory distress
Failure to adequately provide oxygen to cells of the bodyBreathing difficulties, Difficulty breathing
Respiratory arrestRespiratory failure
Breathing cessationA severe form of respiratory insufficiency






Nose
Abnormality of the noseShort nose
An abnormality of the nose.Decreased length of nose
Wide noseProminent nose
Interalar distance more than two standard deviations above the meanDistance between subnasale and pronasale more than two standard deviations above the mean






Gums
GingivitisGingival bleeding
Gingival inflammation, Inflamed gums, Red and swollen gumsBleeding gums, Gingival hemorrhage, Gingivorrhagia
Gingival fibromatosisGingival overgrowth
Gingival fibroma, Gingival fibrous nodules, Hereditary gingival fibromatosis, Idiopathic gingival hyperplasiaGingival enlargement, Gingival hyperplasia, Gingival hypertrophy, Gum enlargement, Gum hypertrophy, Oral soft tissue hyperplasia






Bronchi
Chronic bronchitisRecurrent bronchitis
A subcategory of Chronic Obstructive Pulmonary Disease.An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
AsthmaAbnormality of the bronchi
A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.An abnormality of the set of bronchi.






Larynx
Abnormality of the larynxLaryngeal calcification
An abnormality of the larynx.Calcification (abnormal deposits of calcium) in the laryngeal tissues.
Laryngeal cleftLaryngeal carcinoma
A rare congenital abnormality in the laryngo-tracheal wall.Cancer of the larynx, Laryngeal cancer






Esophagus & Stomach
GastritisGastroesophageal reflux
Stomach inflammationAcid reflux, Heartburn
Gastrointestinal carcinomaGastrointestinal hemorrhage
Carcinoma of the Gastrointestinal System, Digestive System CarcinomaGastrointestinal bleeding, GI haemorrhage






Liver
Abnormality of the liverDecreased liver function
A non-neoplastic or neoplastic disorder that affects the liver parenchyma and intrahepatic bile ducts.A finding that indicates abnormal liver function.
Polycystic liver diseaseLiver cirrhosis
A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease.A chronic disorder of the liver in which liver tissue becomes scarred






Hepatitis & Liver Fibrosis
HepatitisHepatoblastoma
Liver inflammationA kind of neoplasm of the liver that originates from immature liver precursor cells
Hepatic failureHepatic fibrosis
A disorder characterized by the inability of the liver to metabolize chemicals in the body.The presence of excessive fibrous connective tissue in the liver.






Kidney
Renal sarcomaRenal neoplasm
Kidney Sarcoma, Renal SarcomaKidney cancer, Neoplasia of the kidneys
Renal hypoplasiaRenal cortical adenoma
Hypoplastic kidney, Hypoplastic kidneysThe presence of an adenoma in the cortex of the kidney.






Urine
Increased urinary cortisol levelIncreased urinary potassium
Abnormally increased concentration of cortisol in the urine.An increased concentration of potassium(1+) in the urine.
Increased urinary sulfiteIncreased urinary taurine
Increased concentration of SO3(2-), i.e., sulfite, in the urine.Increased concentration of taurine in the urine.






Intestine
Intestinal obstructionIntestinal polyposis
Bowel obstruction, Intestinal blockageGastrointestinal polyps, Multiple intestinal polyps
Intestinal atresiaIntestinal bleeding
A congenital malformation characterized by the absence of a normal opening in a part of the intestine.Bleeding from the intestines.






Colon
ColitisColon cancer
Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum).A primary or metastatic malignant neoplasm that affects the colon.
Colorectal adenomaColonic diverticula
An adenoma that arises from the colon or rectum.A pouch or sac opening from the colon.






Diarrhea
DiarrheaChronic diarrhea
Abnormally increased frequency of loose or watery bowel movements.The presence of chronic diarrhea
Diarrhea 7Congenital secretory diarrhea, sodium type
DIAR7DIAR3






Muscle
Muscle crampsMuscle stiffness
A sustained and usually painful contraction of muscle fibers.A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Muscle weaknessMuscular hypotonia
A reduction in the strength of one or more muscles.A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.






Skin
Abnormality of the skinStiff skin
A skin abnormality that is present at birth or detected in the neonatal period.An induration (hardening) of the skin
Redundant skinDry skin
Loose redundant skin, folds, Sagging, redundant skinSkin characterized by the lack of natural or normal moisture.






Pigment
Abnormality of skin pigmentationAlbinism
An abnormality in the formation or distribution of pigment in the skin, hair or nails.A congenital disorder characterized by partial or complete absence of melanin
Absent skin pigmentationOculocutaneous albinism
Lack of skin pigmentation (coloring).Oculocutaneous Albinism






White Hair
White hairWhite forelock
Hypopigmented hair that appears white.A triangular depigmented region of white hairs
White eyebrowWhite eyelashes
White color (lack of pigmentation) of the eyebrow.White color (lack of pigmentation) of the eyelashes.






Hearing
Hearing impairmentConductive hearing impairment
Congenital deafness, Congenital hearing lossAn abnormality of vibrational conductance of sound to the inner ear
TinnitusBilateral sensorineural hearing impairment
Ringing in ears, Ringing in the earsA bilateral form of sensorineural hearing impairment.






Inner Ear
Vestibular hypofunctionVestibular dysfunction
Reduced functioning of the vestibular apparatus.Impaired vestibular function
Vestibular SchwannomaBilateral vestibular Schwannoma
A benign Schwannoma of the eighth cranial nerve (Vestibulocochlear Nerve)A bilateral vestibular Schwannoma (acoustic neurinoma).






Earlobe
Abnormality of earlobeSmall earlobe
An abnormality of the lobule of pinna.Reduced volume of the earlobe.
Large earlobeAbsent earlobe
Increased volume of the earlobeLobeless ears






Psychology
Personality disorderPersonality changes
A diverse category of psychiatric disordersA noticeable change in a person's behavior and thinking.
Bipolar affective disorderPsychosis
A major affective disorder marked by severe mood swingsA condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.






Developmental Disorder & Asperger Syndrome
Developmental disorderAsperger's disease
A disorder diagnosed in childhood that is marked by either physical or mental impairment or bothAsperger syndrome
Asperger syndrome 3Asperger syndrome 4
Asperger syndrome is considered to be a form of childhood autismAsperger syndrome is considered to be a form of childhood autism






Autism
Autistic behaviorAutism spectrum disorder
Persistent deficits in social interaction and communicationASD, autism, Autism spectrum disorders
Autism 6Autism 7
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age.Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age.






Charcot-Marie-Tooth disease
Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth hereditary neuropathyCharcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth disease, type 2ACharcot-Marie-Tooth disease, axonal type 2V
Hereditary motor and sensory neuropathy 2 ACharcot-Marie-Tooth Neuropathy, Type 2V






Parkinson's Disease
Parkinson's diseaseParkinson-dementia syndrome
A group of disorders which feature impaired motor controlAtypical PSP, Parkinson-Dementia Syndrome, Progressive supranuclear palsy atypical
Parkinsonism with spasticity, X-linkedParkinsonism with favorable response to dopaminergic medication
XPDSFavorable response to levodopa






Meninges
MeningitisMeningocele
A disorder characterized by acute inflammation of the meninges of the brainA congenital or acquired protrusion of the meninges
MeningiomaMeningoencephalocele
A generally slow growing tumor attached to the dura mater.A congenital neural tube closure defect resulting in the protrusion of the brain and meninges through a skull opening.






Cerebrum
Cerebral ischemiaCerebral hemorrhage
Brain ischemia, Cerebrovascular ischemiaHemorrhagic stroke, Intracerebral hemorrhage
Cerebral edemaCerebral degeneration
Abnormal accumulation of fluid in the brain.Neuroaxonal degeneration in the brain






Electroencephalography
EEG abnormalityEEG with burst suppression
Abnormal EEG, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalitiesThe burst suppression pattern in electroencephalography refers to a characteristic periodic pattern
EEG with irregular generalized spike and wave complexesEEG with centrotemporal focal spike waves
EEG shows spikes (<80 ms) and wavesEEG with focal sharp transient waves in the centrotemporal region of the brain






Skull
Abnormality of the skullSclerosis of skull base
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.Dense bone of skull base, HyperCalcification of skull base
Cloverleaf skullCalvarial skull defect
Cloverleaf cranium shapeCalvarial defect, Cranial defect, Skull defect






Bone
Abnormal bone structureBone pain
Any anomaly in the composite material or the layered arrangement of the bony skeleton.An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Bone mineral density quantitative trait locus 18Bone fragility with contractures, arterial rupture, and deafness
BMND18, Susceptibility to Osteoporosis and Osteoporotic FracturesLH3 Deficiency, LYSYL Hydroxylase 3 Deficiency






Bone Marrow
Abnormality of bone marrow cell morphologyInherited bone marrow failure syndrome
An anomaly of the form or number of cells in the bone marrow.A group of inherited genetic hematopoietic stem cell disorders
Bone marrow hypocellularityBone-marrow foam cells
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.The presence of foam cells in the bone marrow






Clavicle & Sternum
Abnormality of the clavicleAbnormality of the sternum
Any abnormality of the clavicles (collar bones).An anomaly of the sternum, also known as the breastbone.
Short sternumPectus excavatum of inferior sternum
Decreased inferosuperior length of the sternum.Pectus excavatum (defect of the chest wall characterized by depression of the sternum)






Rib
Abnormality of the ribsAbnormality of the rib cage
An anomaly of the rib.A morphological anomaly of the rib cage.
Rib fusionPosterior rib fusion
Complete or partial merging of adjacent ribs.Complete or partial merging of the posterior part of adjacent ribs.






Rib Shape
Posterior rib cuppingAnterior rib cupping
Wide, concave posterior rib end.Anterior cupping of ribs, Anteriorly splayed ribs
Horizontal ribsFlaring of rib cage
A horizontal (flat) conformation of the ribsThe presence of wide, concave anterior rib ends.






Cervical Spine
Cervical subluxationCervical cord compression
A partial dislocation of one or more intervertebral joints in the cervical vertebral column.Compression of the spinal cord in the cervical region
Cervical platyspondylyCervical spinal canal stenosis
A flattened vertebral body shape with reduced distance between the vertebral endplatesAn abnormal narrowing of the cervical spinal canal.






Vertebrae
Abnormal vertebral ossificationAbnormal form of the vertebral bodies
An abnormality of the formation and mineralization of one or more vertebrae.Abnormal morphology of vertebral body.
Biconcave vertebral bodiesAbnormality of the intervertebral disk
Exaggerated concavity of the anterior or posterior surface of the vertebral bodyAn abnormality of the intervertebral disk.






Pelvis
Hypoplastic pelvisAbnormal pelvis bone ossification
Underdevelopment of the bony pelvis.An abnormality of the formation and mineralization of any bone of the bony pelvis.
Narrow pelvis boneAbnormality of pelvic girdle bone morphology
Reduced side to side width of the pelvis.An abnormality of the bony pelvic girdle






Arm Bones
Abnormality of the wristAbnormality of the forearm
Abnormality of the wrist, the structure connecting the hand and the forearm.An abnormality of the lower arm.
Abnormality of the ulnaAbnormality of the humerus
An abnormality of the ulna bone of the forearm.An abnormality of the humerus (i.e., upper arm bone).






Leg Bones
Abnormality of tibia morphologyAbnormality of fibula morphology
Abnormality of the tibia (shinbone).An anomaly of the calf bone (fibula), one of the two bones of the calf.
Abnormality of femur morphologyShort metatarsal
Abnormality of the femora, Abnormality of the thighboneShort long bone of foot






Walking
Difficulty walkingInability to walk
Any persistent problem with walking.A response indicating that an individual is or was unable to walk.
Difficulty climbing stairsDifficulty running
Reduced ability to climb stairs.Reduced ability to run.







     
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