List of ICD-9 Codes 240–279: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders

Nutrition disorders (E40–E68, 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: 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
Sodium · Potassium · Magnesium · Calcium · Iron · Zinc · Manganese · Copper · Iodine · Chromium · Molybdenum · Selenium (Keshan disease)
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, met

noco, nuvi, sysi/epon, met

drug (A8/11/12)

Inborn error of amino acid metabolism (E70–E72, 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
  • 3-Methylglutaconic aciduria 1
Tryptophan
  • Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
  • Sarcosinemia
  • D-Glyceric acidemia
  • Glutathione synthetase deficiency
  • 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
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
Phenylalanine/tyrosine
Phenylketonuria
  • Tetrahydrobiopterin deficiency
  • 6-Pyruvoyltetrahydropterin synthase deficiency
Tyrosinemia
  • Type II tyrosinemia
  • Type III tyrosinemia/Hawkinsinuria
  • Alkaptonuria/Ochronosis
  • Type I tyrosinemia
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)
  • 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
  • Ethylmalonic encephalopathy

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 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/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 Glucose-6-phosphate dehydrogenase deficiency · Transaldolase deficiency
Other Hyperoxaluria (Primary hyperoxaluria) · Pentosuria

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

Inborn error of lipid metabolism: dyslipidemia (E78
Hyperlipidemia
  • Hypercholesterolemia/Hypertriglyceridemia
    • Lipoprotein lipase deficiency/Type Ia
    • Familial apoprotein CII deficiency/Type Ib
    • Familial hypercholesterolemia/Type IIa
    • Combined hyperlipidemia/Type IIb
    • Familial dysbetalipoproteinemia/Type III
    • Familial hypertriglyceridemia/Type IV
  • Xanthoma/Xanthomatosis
Hypolipoproteinemia
Hypoalphalipoproteinemia/HDL
  • Lecithin cholesterol acyltransferase deficiency
  • Tangier disease
Hypobetalipoproteinemia/LDL
  • Abetalipoproteinemia
  • Apolipoprotein B deficiency
  • Chylomicron retention disease
Lipodystrophy
  • Barraquer–Simons syndrome
Other
  • Lipomatosis
  • Adiposis dolorosa
  • Lipoid proteinosis
  • APOA1 familial renal amyloidosis

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)
Anabolism
  • Dolichol kinase deficiency
  • Congenital disorder of glycosylation
Post-translational modification
of lysosomal enzymes
  • Mucolipidosis: I-cell disease/II
  • Pseudo-Hurler polydystrophy/III
Catabolism
  • Aspartylglucosaminuria
  • Fucosidosis
  • mannosidosis
    • Alpha-mannosidosis
    • Beta-mannosidosis
  • Sialidosis
  • Schindler disease
Other
  • solute carrier family (Salla disease)
  • Galactosialidosis

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

(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
NCL
  • Infantile
  • Jansky–Bielschowsky disease
  • Batten disease
Other
  • Cerebrotendineous xanthomatosis
  • Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
  • Sea-blue histiocyte syndrome

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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/comp, igrc

imdf/ipig/hyps/tumr

proc, drug (L3/4)

Inborn error of metal metabolism (E83, 275)
Transition metal
Fe high: Primary iron overload disorder: Hemochromatosis/HFE1 · Juvenile/HFE2 · HFE3 · African iron overload/HFE4 · Aceruloplasminemia · Atransferrinemia · Hemosiderosis deficiency: Iron deficiency
Cu high: Copper toxicity · Wilson's disease deficiency: Copper deficiency · Menkes disease/Occipital horn syndrome
Zn high: Zinc toxicity deficiency: Acrodermatitis enteropathica
Electrolyte
Na+ and K+ see Template:Water-electrolyte imbalance and acid-base imbalance
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) · Familial hypocalciuric hypercalcemia deficiency: Hypocalcaemia · Osteomalacia · Pseudohypoparathyroidism (Albright's hereditary osteodystrophy) · Pseudopseudohypoparathyroidism

M: NUT

cof, enz, met

noco, nuvi, sysi/epon, met

drug (A8/11/12)

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/cell

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

proc/itvp, drug (G4B), blte, urte

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

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

M: MYL

cell/phys (coag, heme, immu, gran), csfs

rbmg/mogr/tumr/hist, sysi/epon, btst

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

Metabolic disease: amyloidosis (E85, 277.3)
Common amyloid forming proteins
  • AA
  • ATTR
  • Aβ2M
  • AL
  • Aβ/APP
  • AIAPP
  • ACal
  • APro
  • AANF
  • ACys
  • ABri
Systemic amyloidosis
  • AL amyloidosis
  • AA amyloidosis
  • Aβ2M/Haemodialysis-associated amyloidosis
  • AGel/Finnish type amyloidosis
  • AA/Familial Mediterranean fever
  • ATTR/Transthyretin-related hereditary amyloidosis
Organ-limited amyloidosis
Heart AANF/Isolated atrial amyloidosis
Brain
  • Familial amyloid neuropathy
  • ACys+ABri/Cerebral amyloid angiopathy
  • Aβ/Alzheimer's disease
Kidney
  • AApoA1+AFib+ALys/Familial renal amyloidosis
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

Heparin 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)

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

Inborn error of lipid metabolism: fatty-acid metabolism disorders (E71.3, 277.81–277.85)
Synthesis
  • Biotinidase deficiency
Degradation
Acyl transport
  • Carnitine
    • Primary
    • I
    • II
    • -acylcarnitine
  • Adrenoleukodystrophy
Beta oxidation
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
To acetyl-CoA
  • Malonic aciduria
Aldehyde
  • Sjögren–Larsson syndrome

M: MET

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

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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
  • B structural
    • perx
    • skel
    • cili
    • mito
    • nucl
    • sclr
  • DNA/RNA/protein synthesis
    • drep
    • trfc
    • tscr
    • tltn
  • membrane
    • icha
    • slcr
    • atpa
    • abct
    • othr
  • transduction
    • iter
    • csrc
    • itra
  • trfk
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-Tranebjaerg syndrome) · OPA1 (Kjer's optic neuropathy)
see also mitochondrial proteins
  • B structural
    • perx
    • skel
    • cili
    • mito
    • nucl
    • sclr
  • DNA/RNA/protein synthesis
    • drep
    • trfc
    • tscr
    • tltn
  • membrane
    • icha
    • slcr
    • atpa
    • abct
    • othr
  • transduction
    • iter
    • csrc
    • itra
  • trfk
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 syndrome
  • 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

M: MYL

cell/phys (coag, heme, immu, gran), csfs

rbmg/mogr/tumr/hist, sysi/epon, btst

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

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
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
Acquired
  • AIDS
Leukopenia:
Lymphocytopenia
  • Idiopathic CD4+ lymphocytopenia
Complement deficiency
  • C1-inhibitor (Angioedema/Hereditary angioedema)
  • Complement 2 deficiency/Complement 4 deficiency
  • MBL deficiency
  • Properdin deficiency
  • Complement 3 deficiency
  • Terminal complement pathway deficiency
  • Paroxysmal nocturnal hemoglobinuria
  • Complement receptor deficiency

M: LMC

cell/phys/auag/auab/comp, igrc

imdf/ipig/hyps/tumr

proc, drug (L3/4)

Other metabolic pathology / Inborn error of metabolism (E70–E90, 270–279)
Other
  • Aldolase A deficiency
  • Alpha 1-antitrypsin deficiency
  • Cystic fibrosis
  • Acatalasia
  • Tumor lysis syndrome

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