2008 ICD-9-CM Volume 1 Diagnosis Codes Home > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Other Metabolic Disorders And Immunity Disorders 270-279 >
 Other and unspecified disorders of metabolism- 277 is a non-specific code that cannot be used to specify a diagnosis
Cystic fibrosis- A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling.
- A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003
- An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
- 277.0 is a non-specific code that cannot be used to specify a diagnosis
Cystic fibrosis without meconium ileus- A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling.
- A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003
- An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
- 277.00 is a specific code that can be used to specify a diagnosis
- 277.00 contains 9 index entries
Cystic fibrosis with meconium ileus- 277.01 is a specific code that can be used to specify a diagnosis
- 277.01 contains 10 index entries
Cystic fibrosis with pulmonary manifestations- 277.02 is a specific code that can be used to specify a diagnosis
- 277.02 contains 6 index entries
Cystic fibrosis with gastrointestinal manifestations- 277.03 is a specific code that can be used to specify a diagnosis
- 277.03 contains 3 index entries
Cystic fibrosis with other manifestations- 277.09 is a specific code that can be used to specify a diagnosis
- 277.09 contains 3 index entries
Disorders of porphyrin metabolism- A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
- An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINIC ACID and COPROPORPHYRINS.
- An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
- An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
- An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.
- 277.1 is a specific code that can be used to specify a diagnosis
- 277.1 contains 22 index entries
Other disorders of purine and pyrimidine metabolism- An inborn error of metabolism resulting from a deficiency of hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) with increased conversion of glycine to uric acid with excessive purine synthesis and hyperuricemia. Patients are normal at birth but begin to show hypertonicity at about 4 months and irritability and other neurological symptoms become apparent during the second year of life, the child becoming gradually more aggressive and self-destructive, banging his head, biting the lower lip and, less commonly, the upper lip, cheeks, fingers, and hands, sometimes using the fingers to mutilate his ears and nose. Associated disorders include spastic cerebral palsy, choreoathetosis, renal uric acid calculi, gouty tophi, and uric acid nodules. Mental retardation is common but normal intelligence occurs in some cases.
- An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
- 277.2 is a specific code that can be used to specify a diagnosis
- 277.2 contains 20 index entries
Amyloidosis- A disease characterised by the deposition of amyloid in various organs of the body. It is generally considered that the amyloidoses share common pathogenic mechanisms which lead to protein fibril formation and deposition. These mechanisms may include structural, metabolic, genetic and environmental factors that may be common to all forms of amyloidosis. Primary amyloidosis, while the most common form of amyloidosis, is a sporadic disease and, therefore, can only be investigated on a case by case basis. Secondary (reactive) amyloidosis occurs in subjects with chronic inflammatory disease or cancer but factors which predict amyloid formation and which subject is going to be affected, are not readily apparent. Alzheimer disease, while very common in the aged population, is unpredictable except for those rare forms of familial Alzheimer disease with characterized mutations in specific genes. Hereditary transthyretin amyloidosis has generally been considered a rare disease and the original impetus to study the pathogenesis of this disease was because it represented a human model of systemic amyloidosis.
- A group of diseases in which protein is deposited in specific organs (localized amyloidosis) or throughout the body (systemic amyloidosis). Amyloidosis may be either primary (with no known cause) or secondary (caused by another disease, including some types of cancer). Generally, primary amyloidosis affects the nerves, skin, tongue, joints, heart, and liver; secondary amyloidosis often affects the spleen, kidneys, liver, and adrenal glands.
- A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
- An autosomal recessive inherited disease characterized by episodic FEVER; severe ABDOMINAL PAIN; PLEURISY; ARTHRITIS; and a characteristic ankle RASH. Disease flare-ups tend to last 3 days, and individuals are asymptomatic between attacks. ORCHITIS; benign recurrent MENINGITIS; HEADACHE; and AMYLOID nephropathy may also occur. (From Medicine (Baltimore) 1998 Jul;77(4):268-97)
- 277.3 is a non-specific code that cannot be used to specify a diagnosis
Amyloidosis, unspecified- 277.30 is a specific code that can be used to specify a diagnosis
- 277.30 contains 3 index entries
Familial mediterranean fever- 277.31 is a specific code that can be used to specify a diagnosis
- 277.31 contains 25 index entries
Other amyloidosis- 277.39 is a specific code that can be used to specify a diagnosis
- 277.39 contains 49 index entries
Disorders of bilirubin excretion- A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.
- A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract.
- A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.
- 277.4 is a specific code that can be used to specify a diagnosis
- 277.4 contains 28 index entries
Mucopolysaccharidosis- A syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis and congenital heart defects.
- An inborn error of metabolism characterized by arylsulfatase B (EC 3.1.6.12) deficiency preventing degradation of mucopolysaccharides with their accumulation in soft tissues causing obstructions and compression of the blood vessels, trachea, and peripheral nerves, and disruption of normal bone development, associated with the phenotype similar to that in MPS I but generally normal intelligence and mental retardation reported in a few isolated cases. Three basic types are recognized: Maroteaux-Lamy syndrome type B Synonym: mucopolysaccharidosis (MPS) VI B A mild type marked by usually normal childhood until about 6 years of age when short stature, Legg-Perthes-like changes of the hips, aortic stenosis, spinal deformities, corneal clouding, survival into adulthood. The intermediate type has the phenotype similar to that in mucolipidosis III with coarse Hurler-like facies, stiff joints with decreased mobility, and short stature. The severe type (sometimes designated Maroteaux-Lamy syndrome type A Synonym: mucopolysaccharidosis (MPS) VI A A severe typs usually associated with onset of symptoms in early childhood, a rapidly progressive course, and death in adolescence. Short stature, coarse facies, hyperextended head, corneal clouding, defective hearing, heart abnormalities, and musculoskeletal anomalies are the main characteristics.
- An inborn error of metabolism characterized by faulty degradation of keratan sulfate with lysosomal accumulation and mucopolysaccharidosis, keratansulfaturia. Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia with varying degrees of severity. Mental development is usually normal but progressive intellectual deterioration was reported in type B. Two types are recognized according to the enzymes involved: Type A: Synonyms: Morquio syndrome A galactosamine-4-sulfatase (GALNS) deficiency mucopolysaccharidosis (MPS) IV A This type is caused by galactosamine-6-sulfate sulfatase (EC 3.16.4) and is more severe than type B. It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive joint mobility, kyphosis or kyphoscoliosis, pectus carinatum, the sternum extending from clavicular junction and angling downward in midsection, spinal cord compression associated with atlantoaxial dislocation and thoracolumbar gibbus, protruding abdomen, and clouding of the cornea Type B: Synonyms: Morquio syndrome B Morquio-like syndrome beta-galactosidase deficiency mucopolysaccharidosis (MPS) IV B This type is caused by beta-galactosidase (EC 3.2.1.23) deficiency and is marked a milder phenotype consisting of dysostosis multiplex, pectus carinatum, odontoid hypoplasia, kyphosis, genua valga, platyspondyly, and corneal clouding.
- An inborn error of metabolism with a deficiency of enzymes involved in heparan sulfate (HS) degradation. The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age. Behavioral disorders, mental deterioration, and a loss of motor skills are the principal features. Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: A, B, C and D. The phenotype is similar in all four types and consists mainly of some facial coarsening with dull appearance, slightly sunken nasal bridge, and abundant scalp hair. Early development is usually normal, followed between the ages of 2 to 6 years by mainly behavioral disorders with progressive loss of mental and motor skills with spastic diplegia, the patient eventually becoming bedridden. Death usually takes place from 10 to 20 years of age. Type A has the most severe course with the earliest onset and mortality. Type A Synonyms: Sanfilippo syndrome A heparan sulfate sulfatase deficiency mucopolysaccharidosis IIIA (MPS IIIA) Caused by heparan sulfatase (EC 3.10.1.1) deficiency. Type B Synonyms: Sanfilippo syndrome B mucopolysaccharidosis IIIB (MPS IIIB) N-acetyl-alpha-D-glucosaminidase (NAG) deficiency N-acetyl-alpha-D-glucosaminidase (NAG) polymorphism] is caused by Caused by N-acetyl-alpha-D-glucosaminidase (EC 3.2.1.50) deficiency. Type C Synonyms: Sanfilippo syndrome C acetyl-CoA:alpha-glucosamide N-acetyltransferase deficiency mucopolysaccharidosis IIIC (MPS IIIC) Caused by acetyl-CoA:alpha-glucosamide N-acetyltransferase (EC 2.3.13) deficiency. Type D Synonyms: Sanfilippo syndrome D mucopolysaccharidosis IIID (MPS IIID) N-acetylglucosamine-6-sulfate sulfatase deficiency) C Caused by N-acetylglucosamine-6-sulfate sulfatase (3.1.6.14) deficiency.
- An inborn mucopolysaccharide metabolism disorder with iduronate-2-sulfatase deficiency. Clinical characteristics are similar to those in MPS I, except for the absence of corneal clouding and slower progression of the course of disease and central nervous system deterioration. Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life. Two types are recognized: A severe form (MPS IIA) which is characterized mainly by mental retardation and progressive physical deterioration and early death, and a mild form (MPS IIB) in which patients may survive into adulthood. MPS IIA usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. Obstructive airway disease, cardiac valvular dysfunction, myocardial thickening, pulmonary hypertension, coronary disease, and myocardial infarction may be superimposed. MPS IIB is milder with preservation of intelligence. The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema. Death may occur in early adulthood, usually from airway obstruction or cardiac failure.
- Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
- Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
- Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
- Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
- Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
- 277.5 is a specific code that can be used to specify a diagnosis
- 277.5 contains 36 index entries
Other deficiencies of circulating enzymes- 277.6 is a specific code that can be used to specify a diagnosis
- 277.6 contains 17 index entries
Dysmetabolic syndrome x- A multifaceted syndrome characterized by HYPERINSULINEMIA; dyslipidemia (HYPERLIPIDEMIA); essential HYPERTENSION; abdominal OBESITY; and GLUCOSE INTOLERANCE in individuals with INSULIN RESISTANCE. It is different from MICROVASCULAR ANGINA (cardiac syndrome X).
- 277.7 is a specific code that can be used to specify a diagnosis
- 277.7 contains 5 index entries
Other specified disorders of metabolism- 277.8 is a non-specific code that cannot be used to specify a diagnosis
Primary carnitine deficiency- 277.81 is a specific code that can be used to specify a diagnosis
- 277.81 contains 2 index entries
Carnitine deficiency due to inborn errors of metabolism- 277.82 is a specific code that can be used to specify a diagnosis
- 277.82 contains 1 index entry
Iatrogenic carnitine deficiency- 277.83 is a specific code that can be used to specify a diagnosis
- 277.83 contains 3 index entries
Other secondary carnitine deficiency- 277.84 is a specific code that can be used to specify a diagnosis
- 277.84 contains 1 index entry
Disorders of fatty acid oxidation- 277.85 is a specific code that can be used to specify a diagnosis
- 277.85 contains 15 index entries
Peroxisomal disorders- A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; infantile Refsum disease; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
- A syndrome combining the characteristics of adrenocortical insufficiency (Addison disease) with those of cerebral sclerosis (Schilder disease). Skin bronzing and sclerosis of the brain and demyelination are the principal manifestations.
- An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
- An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
- 277.86 is a specific code that can be used to specify a diagnosis
- 277.86 contains 11 index entries
Disorders of mitochondrial metabolism- A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
- 277.87 is a specific code that can be used to specify a diagnosis
- 277.87 contains 18 index entries
Other specified disorders of metabolism- A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001) -- 2003
- Disseminated, chronic form of Langerhans-cell histiocytosis. It may exhibit the classic triad of exophthalmos, diabetes insipidus, and bone destruction.
- General term for the abnormal appearance of histiocytes in the blood. Based on the pathological features of the cells involved rather than on clinical findings, the histiocytic diseases are subdivided into three groups: HISTIOCYTOSIS, LANGERHANS CELL; HISTIOCYTOSIS, NON-LANGERHANS CELL; and HISTIOCYTIC DISORDERS, MALIGNANT.
- Group of disorders of histiocyte proliferation which includes LETTERER-SIWE DISEASE; HAND-SCHUELLER-CHRISTIAN SYNDROME; and EOSINOPHILIC GRANULOMA. Langerhans cells are components of the lesions.
- 277.89 is a specific code that can be used to specify a diagnosis
- 277.89 contains 29 index entries
Unspecified disorder of metabolism- A condition in which normal metabolic processes are disrupted, usually because of a missing enzyme.
- A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003
- Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
- 277.9 is a specific code that can be used to specify a diagnosis
- 277.9 contains 7 index entries
|
|
|
