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 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

Thyroid

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

Parathyroid

Hypoparathyroidism	Hypoparathyroidism Pseudohypoparathyroidism Pseudopseudohypoparathyroidism

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

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

Height

Multiple

Autoimmune polyendocrine syndrome multiple
- APS1
- APS2
Carcinoid syndrome
Multiple endocrine neoplasia
- 1
- 2A
- 2B
Progeria
Woodhouse-Sakati syndrome

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

Malnutrition

Protein-energy
malnutrition

Vitamin deficiency

B vitamins	B₁: Beriberi / Wernicke–Korsakoff syndrome (Wernicke's encephalopathy Korsakoff's syndrome) B₂: Riboflavin deficiency 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: Vitamin D deficiency/Rickets/Osteomalacia E: Vitamin E deficiency K: Vitamin K deficiency

Mineral
deficiency

Overnutrition

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

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	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

G→fumarate

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

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

Glycogenesis

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

Other

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

Hyperlipidemia

Hypolipoproteinemia

Hypoalphalipoproteinemia/HDL	Lecithin cholesterol acyltransferase deficiency Tangier disease

Hypobetalipoproteinemia/LDL	Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease

Lipodystrophy

Barraquer–Simons syndrome

Other

(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

(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

Other

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

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

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

Volume status

Electrolyte

Sodium	High Hypernatremia Salt poisoning Low Hypotonic Isotonic

Potassium	High Low

Chloride	High Low

Calcium	High Low

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

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

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

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

Skin	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

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

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

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

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)

Primary

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

Acquired

AIDS

Leukopenia:
Lymphocytopenia

Idiopathic CD4+ lymphocytopenia

Complement deficiency

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

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

Disorders of thyroid gland (240–246)

Diseases of other endocrine glands (249–259)

Nutritional deficiencies (260–269)

Other metabolic and immunity disorders (270–279)

Disorders of amino-acid transport and metabolism

Disorders of carbohydrate transport and metabolism

Disorders of lipoid metabolism

Disorders of plasma protein metabolism

Gout

Disorders of mineral metabolism

Disorders of fluid, electrolyte, and acid-base balance

Other and unspecified disorders of metabolism

Obesity and other hyperalimentation

Disorders involving the immune mechanism

See also