List of ICD-9 codes 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders

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Contents

1 3. Endocrine, nutritional and metabolic diseases, and immunity disorders (240–279)
2 See also

3. Endocrine, nutritional and metabolic diseases, and immunity disorders (240–279)

Disorders of thyroid gland (240–246)

(240) Simple and unspecified goiter
- (240.9) Goiter, unspec.
(241) Nontoxic nodular goiter
- (241.0) Thyroid nodule
- (241.9) Goiter, unspec. nontoxic nodular
(242) Thyrotoxicosis with or without goiter
- (242.0) Goiter toxic, diffuse
- (242.9) Hyperthyroidism, NOS
(243) Congenital hypothyroidism
(244) Acquired hypothyroidism
(245) Thyroiditis
(246) Other disorders of thyroid
- (246.2) Thyroid cyst

Diseases of other endocrine glands (249–259)

Note: for 249–259, the following fifth digit can be added:
- (250.x0) Diabetes mellitus type 2
- (250.x1) Diabetes mellitus type 1
- (250.x2) Diabetes mellitus type 2, uncontrolled
- (250.x3) Diabetes mellitus type 1, uncontrolled
(249) Secondary diabetes mellitus
- (249.0) Secondary diabetes mellitus without mention of complication
- (249.1) Secondary diabetes mellitus with ketoacidosis
- (249.2) Secondary diabetes mellitus with hyperosmolarity
- (249.3) Secondary diabetes mellitus with other coma
- (249.4) Secondary diabetes mellitus with renal manifestations
- (249.5) Secondary diabetes mellitus with ophthalmic manifestations
- (249.6) Secondary diabetes mellitus with neurological manifestations
- (249.7) Secondary diabetes mellitus with peripheral circulatory disorders
- (249.8) Secondary diabetes mellitus with other specified manifestations
- (249.9) Secondary diabetes mellitus with unspecified complications
(250) Diabetes mellitus
(251) Other disorders of pancreatic internal secretion
- (251.2) Hypoglycemia, nondiabetic, unspec.
(252) Disorders of parathyroid gland
- (252.0) Hyperparathyroidism, unspec.
  - (252.01) Hyperparathyroidism, primary
- (252.1) Hypoparathyroidism
(253) Disorders of the pituitary gland and its hypothalamic control
- (253.3) Growth hormone deficiency
- (253.6) SIADH
(254) Diseases of thymus gland
(255) Disorders of adrenal glands
- (255.0) Cushing's syndrome
(256) Ovarian dysfunction
- (256.2) Ovarian failure, postablative
  - (256.39) Ovarian failure, other
- (256.4) Ovaries, polycystic
(257) Testicular dysfunction
- (257.2) Testicular hypofunction
(258) Polyglandular dysfunction and related disorders
(259) Other endocrine disorders
- (259.0) Puberty, delayed
- (259.1) Sexual precocity

Nutritional deficiencies (260–269)

(260) Kwashiorkor
(261) Nutritional marasmus
(262) Other severe protein-calorie malnutrition
(263) Other and unspecified protein-calorie malnutrition
(264) Vitamin A deficiency
- (264.0) With conjunctival xerosis
- (264.1) With conjunctival xerosis and Bitot's spot
- (264.2) With corneal xerosis
- (264.3) With corneal ulceration and xerosis
- (264.4) With keratomalacia
- (264.5) With night blindness
- (264.6) With xerophthalmic scars of cornea
- (264.7) Other ocular manifestations of vitamin A deficiency
- (264.8) Other manifestations of vitamin A deficiency
- (264.9) Unspecified vitamin A deficiency
(265) Thiamine and niacin deficiency states
- (265.0) Beriberi
- (265.1) Other and unspecified manifestations of thiamine deficiency
  - Wernicke's encephalopathy
- (265.2) Pellagra
(266) Deficiency of B-complex components
- (266.0) Ariboflavinosis
- (266.2) B12 deficiency w/o anemia
(267) Ascorbic acid deficiency
(268) Vitamin D deficiency
(269) Other nutritional deficiencies
- (269.0) Deficiency of vitamin K
- (269.1) Deficiency of other vitamins
- (269.2) Unspecified vitamin deficiency
- (269.3) Mineral deficiency, not elsewhere classified

Other metabolic and immunity disorders (270–279)

Disorders of amino-acid transport and metabolism

(270) Disorders of amino-acid transport and metabolism
- (270.0) Disturbances of amino-acid transport
- (270.1) Phenylketonuria (PKU)
- (270.1) Tetrahydrobiopterin deficiency
- (270.2) Other disturbances of aromatic amino-acid metabolism
- (270.3) Disturbances of branched-chain amino-acid metabolism
- (270.4) Disturbances of sulphur-bearing amino-acid metabolism
  - Homocystinuria
- (270.5) Disorders of histidine metabolism
- (270.6) Disorders of urea cycle metabolism
  - Citrullinemia
  - Hyperammonemia
- (270.7) Disorders of straight-chain amino-acid metabolism
- (270.8) Other specified disorders of amino-acid metabolism
  - Trimethylaminuria

Disorders of carbohydrate transport and metabolism

(271) Disorders of carbohydrate transport and metabolism
- (271.0) Glycogenosis
- (271.1) Galactosemia
- (271.2) Hereditary fructose intolerance
- (271.3) Intestinal disaccharidase deficiencies and disaccharide malabsorption
  - Lactose intolerance
  - Glucose intolerance
- (271.4) Renal glycosuria
- (271.8) Other specified disorders of carbohydrate transport and metabolism
- (271.9) Unspecified disorder of carbohydrate transport and metabolism

Disorders of lipoid metabolism

(272) Disorders of lipoid metabolism
- (272.0) Pure hypercholesterolemia
  - Fredrickson Type IIa hyperlipoproteinemia
  - Familial hypercholesterolemia
- (272.1) Pure hyperglyceridemia
  - Hypertriglyceridemia, essential
  - Fredrickson Type IV hyperlipoproteinemia
- (272.2) Hyperlipidemia, mixed
- (272.3) Hyperchylomicronemia
- (272.4) Other and unspecified hyperlipidemia
  - Alpha-lipoproteinemia
  - Combined hyperlipidemia
- (272.5) Lipoprotein deficiencies
- (272.6) Lipodystrophy
- (272.7) Lipidoses
- (272.8) Other disorders of lipoid metabolism

Disorders of plasma protein metabolism

(273) Disorders of plasma protein metabolism
- (273.0) Polyclonal hypergammaglobulinemia
- (273.1) Monoclonal paraproteinemia
- (273.2) Other paraproteinemias
- (273.3) Macroglobulinemia
  - Waldenström macroglobulinemia
- (273.8) Other disorders of plasma protein metabolism
  - Atransferrinemia

Gout

(274) Gout
- (274.0) Gouty arthropathy

Disorders of mineral metabolism

(275) Disorders of mineral metabolism
- (275.0) Disorders of iron metabolism
  - Aceruloplasminemia
  - Hemochromatosis
- (275.1) Disorders of copper metabolism
  - Wilson's disease
- (275.2) Disorders of magnesium metabolism
  - Hypermagnesemia
  - Hypomagnesemia
- (275.3) Disorders of phosphorus metabolism
  - Familial hypophosphatemia
  - Hypophosphatasia
- (275.4) Disorders of calcium metabolism
  - (275.41) Hypocalcemia
  - (275.42) Hypercalcemia
  - (275.49) Pseudohypoparathyroidism

Disorders of fluid, electrolyte, and acid-base balance

(276) Disorders of fluid, electrolyte, and acid-base balance
- (276.0) Hypernatremia
- (276.1) Hyponatremia
- (276.2) Acidosis
- (276.3) Alkalosis
- (276.4) Mixed acid-base balance disorder
- (276.5) Dehydration
  - (276.52) Hypovolemia
- (276.7) Hyperkalemia
- (276.8) Hypokalemia

Other and unspecified disorders of metabolism

(277) Other and unspecified disorders of metabolism
- (277.0) Cystic fibrosis
- (277.1) Disorders of porphyrin metabolism
  - Porphyria
    - Acute intermittent porphyria
- (277.2) Other disorders of purine and pyrimidine metabolism
- (277.3) Amyloidosis
  - Familial Mediterranean fever
- (277.4) Hyperbilirubinemia
  - Crigler-Najjar syndrome
  - Gilbert's syndrome
- (277.5) Mucopolysaccharidosis
- (277.6) Other deficiencies of circulating enzymes
- (277.7) Dysmetabolic syndrome x
  - Metabolic syndrome
- (277.8) Other specified disorders of metabolism
  - (277.81) Primary carnitine deficiency
  - (277.82) Carnitine deficiency due to inborn errors of metabolism
  - (277.83) Iatrogenic carnitine deficiency
  - (277.84) Other secondary carnitine deficiency
  - (277.85) Disorders of fatty acid oxidation metabolism
  - (277.86) Disorders of peroxisomal metabolism
    - Zellweger syndrome
  - (277.87) Disorders of mitochondrial metabolism
  - (277.88) Tumor lysis syndrome
  - (277.89) Other specified disorders of metabolism

Obesity and other hyperalimentation

(278) Obesity and other hyperalimentation
- (278.0) Obesity, NOS
- (278.1) Localized adiposity
- (278.2) Hypervitaminosis A
- (278.3) Hypercarotinemia
- (278.4) Hypervitaminosis D

Disorders involving the immune mechanism

(279) Disorders involving the immune mechanism
- (279.0) Deficiency of humoral immunity
  - (279.00) Hypogammaglobulinemia unspecified
  - (279.01) Selective IgA immunodeficiency
  - (279.02) Selective IgM immunodeficiency
  - (279.03) Other selective immunoglobulin deficiencies
  - (279.04) Congenital hypogammaglobulinemia
  - (279.05) Immunodeficiency with increased IgM
  - (279.06) Common variable immunodeficiency
  - (279.09) Other deficiency of humoral immunity
- (279.1) Deficiency of cell-mediated immunity
  - (279.10) Immunodeficiency with predominant t-cell defect unspecified
  - (279.11) DiGeorge syndrome
  - (279.12) Wiskott-Aldrich syndrome
  - (279.13) Nezelof's syndrome
  - (279.19) Other deficiency of cell-mediated immunity
- (279.2) Combined immunity deficiency
  - Severe combined immunodeficiency
- (279.3) Unspecified immunity deficiency
- (279.4) Autoimmune disease not elsewhere classified
- (279.5) Graft-versus-host disease
- (279.8) Other specified disorders involving the immune mechanism
- (279.9) Unspecified disorder of immune mechanism

See also

Template:Medical conditions

Diseases of the endocrine system (E00–E35, 240–259)

Pancreas/
glucose
metabolism

Hypofunction	Diabetes mellitus types: type 1 type 2 MODY 1 2 3 4 5 6 complications coma angiopathy ketoacidosis nephropathy neuropathy retinopathy cardiomyopathy insulin receptor (Rabson–Mendenhall syndrome) Insulin resistance
Hyperfunction	Hypoglycemia beta cell (Hyperinsulinism) G cell (Zollinger–Ellison syndrome)

Hypothalamic/
pituitary axes

gonadotropin
- Kallmann syndrome
- Adiposogenital dystrophy
CRH (Tertiary adrenal insufficiency)
vasopressin (Neurogenic diabetes insipidus)
general (Hypothalamic hamartoma)

Hyperpituitarism	anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion posterior (SIADH) general (Nelson's syndrome)
Hypopituitarism	anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency/Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity posterior (Neurogenic diabetes insipidus) general Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis

Hypothyroidism	Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Euthyroid sick syndrome
Hyperthyroidism	Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Graves' disease
Thyroiditis	Acute infectious Subacute De Quervain's Subacute lymphocytic Autoimmune/chronic Hashimoto's Postpartum Riedel's
Goitre	Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule

Hypoparathyroidism	Hypoparathyroidism Pseudohypoparathyroidism Pseudopseudohypoparathyroidism
Hyperparathyroidism	Primary Secondary Tertiary Osteitis fibrosa cystica

Hyperfunction	aldosterone: Hyperaldosteronism/Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome) sex hormones: 21α CAH 11β CAH
Hypofunction/ Adrenal insufficiency (Addison's, WF)	aldosterone: Hypoaldosteronism 21α CAH 11β CAH cortisol: CAH Lipoid 3β 11β 17α 21α sex hormones: 17α CAH

testicular: enzymatic
Androgen receptor (Androgen insensitivity syndrome)

general: Hypogonadism (Delayed puberty)
Hypergonadism
- Precocious puberty
Hypoandrogenism
Hypoestrogenism
Hyperandrogenism
Hyperestrogenism
Postorgasmic illness syndrome

Height

Multiple

v t e Index of hormones
Description	Glands Hormones thyroid intermediates metabolism mineralocorticoids Physiology Development
Disease	Diabetes Congenital Neoplasms and cancer Other Symptoms and signs
Treatment	Procedures Drugs calcium balance corticosteroids oral hypoglycemics pituitary and hypothalamic thyroid

Malnutrition or nutrition disorders (E40–E68, 260–269)

Protein-energy
malnutrition

B vitamins	B₁: Beriberi / Wernicke–Korsakoff syndrome (Wernicke's encephalopathy Korsakoff's syndrome) B₂: Ariboflavinosis B₃: Pellagra (Niacin deficiency) B₆: Pyridoxine deficiency B₇: Biotin deficiency B₉: Folate deficiency B₁₂: Vitamin B₁₂ deficiency
Other vitamins	A: Vitamin A deficiency/Bitot's spots C: Scurvy D: Hypovitaminosis D/Rickets/Osteomalacia E: Vitamin E deficiency K: Vitamin K deficiency

Mineral
deficiency

Overweight Obesity	Childhood obesity Obesity hypoventilation syndrome Abdominal obesity
Vitamin poisoning	Hypervitaminosis A Hypervitaminosis D Hypervitaminosis E
Mineral overload	see inborn errors of metal metabolism, toxicity

v t e Index of nutrition
Description	Vitamins metabolism Cofactors Metal metabolism Fats metabolism intermediates lipoproteins Sugars Glycolysis enzymes Glycogenesis and glycogenolysis intermediates Fructose and galactose intermediates
Disease	Vitamins Carbohydrate Lipid storage Metals Other Symptoms and signs Tests
Treatment	Drugs obesity lipid-modifying Vitamins Mineral supplements

Inborn error of amino acid metabolism (E70–E72, 270)

Lysine/straight chain	Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria
Leucine	3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease
Tryptophan	Hypertryptophanemia

G→pyruvate→citrate

Glycine	D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine→Creatine: GAMT deficiency Glycine encephalopathy

G→glutamate→
α-ketoglutarate

Histidine	Carnosinemia Histidinemia Urocanic aciduria
Proline	Hyperprolinemia Prolidase deficiency
Glutamate/glutamine	SSADHD

G→propionyl-CoA→
succinyl-CoA

Valine	Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease
Isoleucine	2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease
Methionine	Cystathioninuria Homocystinuria Hypermethioninemia
General BC/OA	Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia

Phenylalanine/tyrosine

Phenylketonuria	6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency
Tyrosinemia	Alkaptonuria/Ochronosis Type I tyrosinemia Type II tyrosinemia Type III tyrosinemia/Hawkinsinuria
Tyrosine→Melanin	Albinism: Ocular albinism (1) Oculocutaneous albinism (Hermansky–Pudlak syndrome) Waardenburg syndrome
Tyrosine→Norepinephrine	Dopamine beta hydroxylase deficiency reverse: Brunner syndrome

G→oxaloacetate

Urea cycle/Hyperammonemia (arginine aspartate)	Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency/translocase deficiency

Transport/
IE of RTT

Other

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Congenital alactasia Sucrose intolerance
Monosaccharide transport	Glucose-galactose malabsorption Inborn errors of renal tubular transport (Renal glycosuria) Fructose malabsorption

Hexose → glucose

Monosaccharide catabolism

fructose:	Essential fructosuria Fructose intolerance
galactose/galactosemia:	GALK deficiency GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

extralysosomal:	GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase GSD type III, Cori's, debranching
lysosomal/LSD: GSD type II, Pompe's, glucosidase

Glucose ⇄ CAC

Glycolysis	MODY 2/HHF3 GSD type VII, Tarui's, phosphofructokinase Triosephosphate isomerase deficiency Pyruvate kinase deficiency
Gluconeogenesis	PCD Fructose bisphosphatase deficiency GSD type I, von Gierke, glucose 6-phosphatase

Pentose phosphate pathway

Other

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

Inborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6)

Hypolipoproteinemia

Hypoalphalipoproteinemia/HDL	Lecithin cholesterol acyltransferase deficiency Tangier disease
Hypobetalipoproteinemia/LDL	Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease

Barraquer–Simons syndrome

Other

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)

Anabolism

Post-translational modification
of lysosomal enzymes

Catabolism

Other

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8)

Sphingolipidoses
(to ceramide)

From ganglioside (gangliosidoses)	Ganglioside: GM1 gangliosidoses GM2 gangliosidoses (Sandhoff disease Tay–Sachs disease AB variant)
From globoside	Globotriaosylceramide: Fabry's disease
From sphingomyelin	Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated type C) Glucocerebroside: Gaucher's disease
From sulfatide (sulfatidoses leukodystrophy)	Sulfatide: Metachromatic leukodystrophy Multiple sulfatase deficiency Galactocerebroside: Krabbe disease
To sphingosine	Ceramide: Farber disease

Other

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

v t e Immunoproliferative immunoglobulin disorders (D89, 273)
PCDs/PP	Plasmacytoma Multiple myeloma (Plasma cell leukemia) MGUS IgM (Macroglobulinemia/Waldenström's macroglobulinemia) heavy chain (Heavy chain disease) light chain (Primary amyloidosis)
Other hypergammaglobulinemia	Cryoglobulinemia

Inborn error of metal metabolism (E83, 275)

Transition metal

high:	Primary iron overload disorder: Hemochromatosis/HFE1 Juvenile/HFE2 HFE3 African iron overload/HFE4 Aceruloplasminemia Atransferrinemia Hemosiderosis
deficiency:	Iron deficiency

high:	Copper toxicity Wilson's disease
deficiency:	Copper deficiency Menkes disease/Occipital horn syndrome

high:	Zinc toxicity
deficiency:	Acrodermatitis enteropathica

Na⁺ and K⁺

see Template:Water-electrolyte imbalance and acid-base imbalance

high:	Hyperphosphatemia
deficiency:	Hypophosphatemia alkaline phosphatase Hypophosphatasia

high:	Hypermagnesemia
deficiency:	Hypomagnesemia

high:	Hypercalcaemia Milk-alkali syndrome (Burnett's) Calcinosis (Calciphylaxis, Calcinosis cutis) Calcification (Metastatic calcification, Dystrophic calcification) Familial hypocalciuric hypercalcemia
deficiency:	Hypocalcaemia Osteomalacia Pseudohypoparathyroidism (Albright's hereditary osteodystrophy) Pseudopseudohypoparathyroidism

v t e Index of nutrition
Description	Vitamins metabolism Cofactors Metal metabolism Fats metabolism intermediates lipoproteins Sugars Glycolysis enzymes Glycogenesis and glycogenolysis intermediates Fructose and galactose intermediates
Disease	Vitamins Carbohydrate Lipid storage Metals Other Symptoms and signs Tests
Treatment	Drugs obesity lipid-modifying Vitamins Mineral supplements

Water-electrolyte imbalance and acid-base imbalance (E86–E87, 276)

Sodium	Hypernatremia Hyponatremia (Hypotonic, Isotonic)
Potassium	Hyperkalemia Hypokalemia
Chloride	Hyperchloremia Hypochloremia
Calcium	Hypercalcaemia Hypocalcaemia

Acidosis	Metabolic: High anion gap (Ketoacidosis/Diabetic ketoacidosis, Lactic) Normal anion gap (Hyperchloremic, Renal tubular) Respiratory
Alkalosis	Metabolic: Contraction alkalosis Respiratory
Both	Mixed disorder of acid-base balance

v t e Index of the urinary system
Description	Anatomy Physiology Development Cells
Disease	Electrolyte and acid-base Congenital Neoplasms and cancer Other Symptoms and signs Urine tests findings Blood tests
Treatment	Procedures Drugs potassium and phosphate Intravenous fluids

Inborn error of purine-pyrimidine metabolism (E79, 277.2)

Purine metabolism

Anabolism	Adenylosuccinate lyase deficiency Adenosine Monophosphate Deaminase Deficiency type 1
Nucleotide salvage	Lesch-Nyhan syndrome/Hyperuricemia Adenine phosphoribosyltransferase deficiency
Catabolism	Adenosine deaminase deficiency Purine nucleoside phosphorylase deficiency Xanthinuria Gout Mitochondrial neurogastrointestinal encephalopathy syndrome

Pyrimidine metabolism

Anabolism	Orotic aciduria Miller syndrome
Catabolism	Dihydropyrimidine dehydrogenase deficiency

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

Heme metabolism disorders (E80, 277.1, 277.4)

Porphyria,
hepatic and erythropoietic
(porphyrin)

early mitochondrial:	ALAD porphyria Acute intermittent porphyria
cytoplasmic:	Gunther disease/congenital erythropoietic porphyria Porphyria cutanea tarda/Hepatoerythropoietic porphyria
late mitochondrial:	Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria

Hereditary hyperbilirubinemia
(bilirubin)

unconjugated:	Gilbert's syndrome Crigler–Najjar syndrome Lucey–Driscoll syndrome
conjugated:	Dubin–Johnson syndrome Rotor syndrome

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

v t e Index of cells from bone marrow
Description	Immune system Cells Physiology coagulation proteins granule contents colony-stimulating heme and porphyrin metabolism intermediates
Disease	Red blood cell Monocyte and granulocyte Neoplasms and cancer Histiocytosis Symptoms and signs Blood tests findings
Treatment	Transfusion Drugs thrombosis bleeding other

Metabolic disease: amyloidosis (E85, 277.3)

Common amyloid forming proteins

Systemic amyloidosis

Organ-limited amyloidosis

Heart	AANF/Isolated atrial
Brain	Familial amyloid neuropathy ACys+ABri/Cerebral amyloid angiopathy Aβ/Alzheimer's disease
Kidney	AApoA1+AFib+ALys/Familial renal
Cutaneous	Primary cutaneous amyloidosis Amyloid purpura
Endocrine	Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2

(LSD) Inborn error of carbohydrate metabolism: mucopolysaccharidosis (E76, 277.5)

Anabolism

Pentosuria
Heparan sulfate: EXT1 Hereditary multiple exostoses 1
Chondroitin sulfate: PAPSS2 Spondyloepimetaphyseal dysplasia, Pakistani type

Catabolism

IDUA
- 1:Hurler/Scheie
IDS
- 2:Hunter
SGSH/NAGLU/HGSNAT/GNS
- 3:Sanfilippo ABCD
GALNS/GLB1
- 4:Morquio
ARSB
- 6:Maroteaux-Lamy
GUSB
- 7:Sly

v t e Index of inborn errors of metabolism
Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates
Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs
Treatment	Drugs other

Inborn error of lipid metabolism: fatty-acid metabolism disorders (E71.3, 277.81–277.85)

Synthesis

Biotinidase deficiency

Degradation

Carnitine
- Primary
- I
- II
- -acylcarnitine
Adrenoleukodystrophy

General	Acyl CoA dehydrogenase Short-chain Medium-chain Long-chain 3-hydroxy Very long-chain Mitochondrial trifunctional protein deficiency: Acute fatty liver of pregnancy
Unsaturated	2,4 Dienoyl-CoA reductase deficiency
Odd chain	Propionic acidemia
Other	3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Malonic aciduria

Sjögren–Larsson syndrome

v t e Genetic disorder, organelle: Peroxisomal disorders and lysosomal structural disorders (E80.3, 277.86)
Peroxisome biogenesis disorder	Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease Adult Refsum disease-2 RCP 1
Enzyme-related	Acatalasia RCP 2&3 Mevalonate kinase deficiency D-bifunctional protein deficiency Adult Refsum disease-1
Transporter-related	X-linked adrenoleukodystrophy
Lysosomal	Danon disease
See also: proteins, intermediates

v t e Non-Mendelian inheritance: Mitochondrial diseases (277.87)
Carbohydrate metabolism	PCD PDHA
Primarily nervous system	LHON NARP Leigh's
Myopathies	Mitochondrial encephalomyopathy MELAS MERRF KSS PEO
No primary system	DAD MNGIE Pearson syndrome
Chromosomal	TIMM8A Mohr–Tranebjærg syndrome OPA1 Kjer's optic neuropathy
see also mitochondrial proteins

v t e Histiocytosis (D76.0, 277.89)
WHO-I/Langerhans cell histiocytosis/ X-type histiocytosis	Letterer–Siwe disease Hand–Schüller–Christian disease Eosinophilic granuloma Congenital self-healing reticulohistiocytosis
WHO-II/non-Langerhans cell histiocytosis/ Non-X histiocytosis	Juvenile xanthogranuloma Hemophagocytic lymphohistiocytosis Erdheim-Chester disease Niemann-Pick disease Sea-blue histiocyte Benign cephalic histiocytosis Generalized eruptive histiocytoma Xanthoma disseminatum Progressive nodular histiocytosis Papular xanthoma Hereditary progressive mucinous histiocytosis Reticulohistiocytosis (Multicentric reticulohistiocytosis, Reticulohistiocytoma) Indeterminate cell histiocytosis
WHO-III/malignant histiocytosis	Histiocytic sarcoma Langerhans cell sarcoma Interdigitating dendritic cell sarcoma Follicular dendritic cell sarcoma
Ungrouped	Rosai–Dorfman disease

Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)

Antibody/humoral (B)

Hypogammaglobulinemia	X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy
Dysgammaglobulinemia	IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome (1 2 3 4 5) Wiskott-Aldrich syndrome Hyper-IgE syndrome
Other	Common variable immunodeficiency ICF syndrome

T cell deficiency (T)

thymic hypoplasia: hypoparathyroid (Di George's syndrome)
euparathyroid (Nezelof syndrome
Ataxia telangiectasia)

peripheral: Purine nucleoside phosphorylase deficiency

Hyper IgM syndrome (1)

Severe combined (B+T)

x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
Omenn syndrome
ZAP70 deficiency
Bare lymphocyte syndrome

AIDS

Leukopenia:
Lymphocytopenia

Idiopathic CD4+ lymphocytopenia

Complement deficiency

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International Classification of Diseases