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Information about Xanthoma

Xanthoma
Classification & external resources
ICD-10E78.2, K13.4
ICD-9272.2, 374.51
DiseasesDB28524
eMedicinederm/461 
MeSHD014973
A xanthoma (or xanthomata or xanthomatosis) (from Greek xanthos, ξανθος, "yellow") is a deposition of yellowish cholesterol-rich material in tendons and other body parts in various disease states:

See also

External links



 •  • [ e]
Metabolic pathology (, )
Amino acidAromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
CarbohydrateLactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storageSphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipidLipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
MineralCu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte
and acid-base balance		Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidineHyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
PorphyrinAcute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
BilirubinUnconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
GlycosaminoglycanMucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
GlycoproteinMucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
OtherAlpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
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For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


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The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

It directly integrates the Unified Medical Language System.

External links

  • Diseases Database

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eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. It was sold to WebMD in January 2006.
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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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Cholesterol is a sterol (a combination steroid and alcohol), a lipid found in the cell membranes of all tissues, and is transported in the blood plasma of all animals. Because cholesterol is synthesized by all eukaryotes, trace amounts of cholesterol are also found in membranes of
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A tendon (or sinew) is a tough band of fibrous connective tissue that connects muscle to bone and is built to withstand tension. Tendons are similar to ligaments except that ligaments join one bone to another.
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Familial hypercholesterolemia
Classification & external resources

ICD-10 E 78.0
ICD-9 272.0

OMIM 143890
DiseasesDB 4707
MedlinePlus 000392
eMedicine med/1072  

MeSH C16.320.565.556.
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Cerebrotendineous xanthomatosis
Classification & external resources

ICD-10 E 75.5
ICD-9 272.7

OMIM 213700
DiseasesDB 29239

MeSH D019294 Cerebrotendineous xanthomatosis (or cerebrotendinous xanthomatosis
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Xanthelasma
Classification & external resources

ICD-10 H 02.6
ICD-9 374.51

DiseasesDB 28519
MedlinePlus 001447
eMedicine oph/610  

Xanthelasma (or xanthelasma palpebrarum
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Pseudoxanthoma elasticum
Classification & external resources

ICD-10 Q 82.8
(ILDS Q82.81)
ICD-9 757.39

OMIM 264800
DiseasesDB .htm 10876 10881 10885 10894

eMedicine derm/359   oph/475
MeSH D011561
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GPnotebook is a British medical database for general practitioners (GPs).[1] It is an online encyclopaedia of medicine that provides an immediate reference resource for clinicians worldwide. The database consists of over 30,000 pages of information.
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A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. Most metabolic disorders are genetic, though a few are "acquired" as a result of diet, toxins, infections, etc.
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Pathologist redirects here. For other uses of the terms pathology or pathological, see pathology (disambiguation).


Pathology is the study and diagnosis of disease through examination of organs, tissues, cells and bodily fluids.
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amino acid is a molecule that contains both amine and carboxyl functional groups. In biochemistry, this term refers to alpha-amino acids with the general formula H2NCHRCOOH, where R is an organic substituent.
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Aromatic amino acids are amino acids which include an aromatic ring.

Examples include:
  • phenylalanine, tryptophan, and tyrosine
  • thyroxine

See also

  • Aromatic L-amino acid decarboxylase

External links

  • MeSH

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Phenylketonuria
Classification & external resources

Phenylalanine
ICD-10 E 70.0
ICD-9 270.1

OMIM 261600
DiseasesDB 9987
MedlinePlus 001166
eMedicine ped/1787   derm/712
MeSH D010661 Phenylketonuria (PKU
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MeSH D000474 Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (EC 1.13.11.
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MeSH D009794 Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine.
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MeSH D020176 Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine.

Tyrosinemia is inherited in an autosomal recessive pattern.
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Albinism
Classification & external resources

Albinistic boy
ICD-10 E 70.3
ICD-9 270.2

OMIM 203100 103470 , 203200 , 203280 ,
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Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine.
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branched-chain amino acids or BCAA is sometimes used to refer to the amino acids having aliphatic side-chains that are non-linear. These are leucine, isoleucine and valine.
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Maple syrup urine disease
Classification & external resources

Leucine (pictured above), isoleucine, and valine are the branched-chain amino acids which build up in MSUD.
ICD-10 E 71.0
ICD-9 270.
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Propionic acidemia
Classification & external resources

Propionic acid
ICD-10 E 71.1
ICD-9 270.3

OMIM 606054
DiseasesDB 29673 29904

eMedicine ped/1906   Propionic acidemia
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Methylmalonic acidemia (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia.
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Isovaleric acidemia
Classification & external resources

Isovaleric acid
ICD-10 E 71.1
ICD-9 270.3

OMIM 243500
DiseasesDB 29840

Isovaleric acidemia
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3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria type 1 or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly.
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