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

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

Hypothalamus

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

Pituitary

Hyperpituitarism	anterior (Acromegaly, Hyperprolactinaemia, Pituitary ACTH hypersecretion) · posterior (SIADH) · general (Nelson's syndrome)

Hypopituitarism	anterior (Kallmann syndrome, Growth hormone deficiency, ACTH deficiency/Secondary adrenal insufficiency) · posterior (Neurogenic diabetes insipidus) · general (Empty sella syndrome, Pituitary apoplexy, Sheehan's syndrome, Lymphocytic hypophysitis)

Thyroid

Parathyroid

Hypoparathyroidism	Pseudohypoparathyroidism

Hyperparathyroidism	Primary · Secondary · Tertiary · Osteitis fibrosa cystica

Adrenal

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

Gonads

ovarian: Polycystic ovary syndrome · Premature ovarian failure

testicular: enzymatic (5-alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency) · Androgen receptor (Androgen insensitivity syndrome)

general: Hypogonadism (Delayed puberty) · Hypergonadism (Precocious puberty)

Height

Gigantism · Dwarfism/Short stature (Laron syndrome, Psychosocial)

Multiple

Autoimmune polyendocrine syndrome (APS1, APS2) · Carcinoid syndrome · Multiple endocrine neoplasia (1, 2A, 2B) · Progeria (Werner syndrome, Acrogeria, Metageria) · Woodhouse-Sakati syndrome

M: END

anat/phys/devp/horm/cell

noco(d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H3/H5)

Nutrition disorders (E40-68, 260-269)

Hypoalimentation/
malnutrition

Protein-energy
malnutrition

Kwashiorkor · Marasmus · Catabolysis

Avitaminosis

B vitamins	B₁: Beriberi/Wernicke's encephalopathy(Thiamine deficiency) · B₂: Ariboflavinosis · B₃: Pellagra(Niacin deficiency) · B₆: Pyridoxine deficiency · B₇: Biotin deficiency · B₉: Folate deficiency · B₁₂: Vitamn 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

Zinc · Iron · Magnesium · Chromium · Selenium (Keshan disease) · Manganese · Molybdenum · Copper · Calcium · Potassium

Hyperalimentation

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

M: NUT

cof, enz

noco, nuvi, sysi/epon

drug(A8/11/12)

Inborn error of amino acid metabolism (E70-72, 270)

K→acetyl-CoA

Lysine/straight chain	Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria

Leucine	Maple syrup urine disease · Isovaleric acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Tryptophan	Hypertryptophanemia

G→pyruvate→citrate

Glycine

Sarcosinemia · D-Glyceric acidemia · Glutathione synthetase deficiency

Glycine→Creatine: GAMT deficiency

G→glutamate→
α-ketoglutarate

Histidine	Carnosinemia · Histidinemia · Urocanic aciduria

Proline	Hyperprolinemia · Prolidase deficiency

Glutamate/glutamine	SSADHD

G→propionyl-CoA→
succinyl-CoA

Valine	Maple syrup urine disease · Hypervalinemia · Isobutyryl-CoA dehydrogenase deficiency

Isoleucine	Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency

Methionine	Hypermethioninemia · Homocystinuria · Cystathioninuria

General BC/OA	Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency

G→fumarate

G→oxaloacetate


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

Transport/
IE of RTT

Solute carrier family: Cystinuria · Hartnup disease · Lysinuric protein intolerance · Iminoglycinuria

Fanconi syndrome: Oculocerebrorenal syndrome · Cystinosis

Other

Trimethylaminuria · 2-Hydroxyglutaric aciduria · Fumarase deficiency

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73-74, 271)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Lactose intolerance · 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

Glycogenesis	GSD type 0, glycogen synthase · GSD type IV, Andersen's, branching

Glycogenolysis	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 · GSD type VII, Tarui's, phosphofructokinase · Triosephosphate isomerase deficiency · Pyruvate kinase deficiency

Pyruvate catabolism	PDHA · Fumarase deficiency

Gluconeogenesis	PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6-phosphatase

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency · Pentosuria

Other

Hyperoxaluria (Primary hyperoxaluria)

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

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

Hyperlipidemia

Hypercholesterolemia/Hypertriglyceridemia (Type I, Familial hypercholesterolemia/Type IIa, Combined hyperlipidemia/Type IIb) · Xanthoma/Xanthomatosis

Hypolipoproteinemia

Hypoalphalipoproteinemia/HDL	Lecithin cholesterol acyltransferase deficiency · Tangier disease

Hypobetalipoproteinemia/LDL	Abetalipoproteinemia · Apolipoprotein B deficiency

Lipodystrophy

Barraquer–Simons syndrome

Other

Lipomatosis · Adiposis dolorosa · Lipoid proteinosis

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis/mucolipidosis (E77, 272.7)

Post-translational modification
of lysosomal enzymes

I-cell disease/II · Pseudo-Hurler polydystrophy/III

Glycoprotein degradation

Aspartylglucosaminuria · Fucosidosis · mannosidosis (Alpha-mannosidosis, Beta-mannosidosis) - Sialidosis/I

Other

channelopathy (Mucolipidosis type IV) · solute carrier family (Salla disease) · Galactosialidosis

anabolism: Dolichol kinase deficiency

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

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

Sphingolipidoses
(to ceramide)

NCL

Infantile · Jansky-Bielschowsky disease · Batten disease

Other

Cerebrotendineous xanthomatosis · Cholesteryl ester storage disease (Wolman disease) · Sea-blue histiocyte syndrome

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

Immune disorders, 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

M: LMC

cell/phys/auag/auab

imdf/ipig/hyps/tumr

proc, drug(L3/4)

Inborn error of metal metabolism (E83, 275)

Transition metal

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

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

Zn	high: Zinc toxicity deficiency: Acrodermatitis enteropathica

Electrolyte

PO₄³⁻	high: Hyperphosphatemia deficiency: Hypophosphatemia · alkaline phosphatase (Hypophosphatasia)

Mg²⁺	high: Hypermagnesemia deficiency: Hypomagnesemia

Ca²⁺	high: Hypercalcaemia · Milk-alkali syndrome (Burnett's) · Calcinosis (Calciphylaxis, Calcinosis cutis) · Calcification (Metastatic calcification, Dystrophic calcification) deficiency: Hypocalcaemia · Osteomalacia · Pseudohypoparathyroidism (Albright's hereditary osteodystrophy) · Pseudopseudohypoparathyroidism

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

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

Volume status

Volume contraction (Dehydration/Hypovolemia) · Hypervolemia

Electrolyte

Na⁺	Hypernatremia · Hyponatremia (Hypotonic, Isotonic)

K⁺	Hyperkalemia · Hypokalemia

Cl⁻	Hyperchloremia · Hypochloremia

Acid-base

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

M: URI

anat/phys/devp

noco/acba/cong/tumr, sysi/epon, urte

proc, drug (G4B), cbbt, cbut

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

Purine metabolism

Anabolism	Adenylosuccinate lyase deficiency - Myoadenylate deaminase deficiency

Nucleotide salvage	Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency

Catabolism	Adenosine deaminase deficiency - Purine nucleoside phosphorylase deficiency - Xanthinuria - Gout

Pyrimidine metabolism

Anabolism	Orotic aciduria

Catabolism	Dihydropyrimidine dehydrogenase deficiency

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

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 · Variegate porphyria · Erythropoietic protoporphyria

Hereditary hyperbilirubinemia
(bilirubin)

unconjugated: Gilbert's syndrome · Crigler-Najjar syndrome · Lucey-Driscoll syndrome

conjugated: Dubin-Johnson syndrome · Rotor syndrome

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

M: MYL

cell/phys (coag, heme, gran)

rbmg/mogr/tumr, sysi/epon, btst

drug (B1/2/3+5+6), btst

Metabolic disease: amyloidosis (E85, 277.3)

Common amyloid forming proteins

Serum amyloid A · Transthyretin · Beta-2 microglobulin · Bence Jones protein · Amyloid precursor protein · Beta amyloid · Amylin

Systemic amyloidosis

AL amyloidosis · AA amyloidosis · Haemodialysis-associated amyloidosis · Senile systemic amyloidosis · Finnish type amyloidosis · Familial Mediterranean fever

Organ-limited amyloidosis

Heart	Cardiac amyloidosis

Brain	Familial amyloid neuropathy · Cerebral amyloid angiopathy · Alzheimer's disease

Kidney	Familial renal amyloidosis

Cutaneous	Primary cutaneous amyloidosis · Amyloid purpura

Thyroid	Calcitonin

Pituitary	Prolactin

Pancreas	Amylin

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

Anabolism

Pentosuria

Catabolism

1:Hurler/Scheie · 2:Hunter · 3:Sanfilippo ABCD · 4:Morquio · 6:Maroteaux-Lamy · 7:Sly

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

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

Synthesis

Biotinidase deficiency

Degradation

M: MET

mt, a/u/y/n/h, r/g/c/p/i, f/s/l/o, m

au/y/n/h, rgcp/i, f/s/l/o, m, epon

meds(A16, C10),intm(a/u/y/n/h, r/g/c/p/i, f/s/o)

v • d • e Peroxisomal disorders (277.86)

Zellweger spectrum	Zellweger syndrome · Adrenoleukodystrophy (Adrenomyeloneuropathy) · Refsum disease (Infantile form)

Other	Acatalasia · Rhizomelic chondrodysplasia punctata · Mevalonate kinase deficiency

see also enzymes, intermediates

v • d • 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

Histiocytosis (D76.0, 277.89)

WHO-I/Langerhans cell histiocytosis

Letterer–Siwe disease · Hand–Schüller–Christian disease · Eosinophilic granuloma

WHO-II/non-Langerhans cell histiocytosis

Juvenile xanthogranuloma · Hemophagocytic lymphohistiocytosis · Erdheim-Chester disease · Niemann-Pick disease · Sea-blue histiocyte syndrome

WHO-III/malignant histiocytosis

Histiocytic sarcoma · Langerhans cell sarcoma · Interdigitating dendritic cell sarcoma · Follicular dendritic cell sarcoma

Ungrouped

X-type histiocytosis: Congenital self-healing reticulohistiocytosis

Non-X histiocytosis: Benign cephalic histiocytosis · Generalized eruptive histiocytoma · Xanthoma disseminatum · Progressive nodular histiocytosis · Papular xanthoma · Hereditary progressive mucinous histiocytosis · Reticulohistiocytosis (Multicentric reticulohistiocytosis, Reticulohistiocytoma) · Indeterminate cell histiocytosis

M: MYL

cell/phys (coag, heme, gran)

rbmg/mogr/tumr, sysi/epon, btst

drug (B1/2/3+5+6), btst

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

Primary

Antibody/humoral (B)

Hypogammaglobulinemia	X-linked agammaglobulinemia · Transient hypogammaglobulinemia of infancy

Dysgammaglobulinemia	IgA deficiency · IgG deficiency · IgM deficiency · Hyper IgM syndrome (2, 3, 4, 5) · Wiskott-Aldrich syndrome · Hyper-IgE syndrome

Other	Common variable immunodeficiency · ICF syndrome