Endocrine, nutritional and metabolic diseases

(E00–E90)
This chapter contains the following blocks:
E00–E07 Disorders of thyroid gland
E10–E14 Diabetes mellitus
E15–E16 Other disorders of glucose regulation and pancreatic internal secretion
E20–E35 Disorders of other endocrine glands
E40–E46 Malnutrition
E50–E64 Other nutritional deficiencies
E65–E68 Obesity and other hyperalimentation
E70–E90 Metabolic disorders
Asterisk categories for this chapter are provided as follows:
E35* Disorders of endocrine glands in diseases classified elsewhere
E90* Nutritional and metabolic disorders in diseases classified elsewhere
Obesity and other hyperalimentation
(E65–E68)
Obesity and other hyperalimentation
(E65–E68)
Pengertian obesitas dan kegemukan mempunyai makna
yang berbeda-beda bagi tiap orang.

Namun, sebagian besar orang menganggap kelebihan berat

badan jauh melebihi berat yang diinginkan sebagai
kegemukan.
.
Metode yang paling banyak digunakan untuk mengukur tingkat
obesitas adalah body mass index (BMI), yang didapat dengan
cara membagi berat badan (kg) dengan kuadrat dari tinggi
badan (meter).

BB
BMI =

BMI is not a percentage of body fat.

BMI is only part of a diagnosis of obesity.
BMI
E65 Localized adiposity
Fat pad

BMI and Stages of Adiposity

Normal weight 18-24.9

Overweight 25-29.9
Adiposity stage I 30-34.9
Adiposity stage II 35-39.9
Adiposity stage III 40 and more
(Adiposity permagna or morbid obesity)
E65 Localized adiposity

Localized adiposity is an aesthetic problem that mainly affects

women
Cryolipolysis & Lipolysis is technique for localized fat reduction
Cryolipolysis
is a method to remove fat by freezing and nonsurgical
technic
The method involves controlled application of cooling
within the temperature range of -11 to +5 °C for the non-
invasive, localized reduction of fat deposits, intending to
reshape the contours of the body.
The degree of exposure to cooling causes cell death of
subcutaneous fat tissue, without apparent damage to the
overlying skin
The device for cryolipolysis has an applicator which is applied to
the targeted treatment area, allowing tissue to be vacuumed up
between 2 cooling panels
Liposuction
is a surgical procedure that uses a suction technique to
remove fat from specific areas of the body
86 Operations on skin and subcutaneous tissue

86.8 Other repair and reconstruction of skin and subcutaneous tis

85.55 Fat graft to breast

86.83 Size reduction plastic operation
Liposuction
Reduction of adipose tissue of :
abdominal wall (pendulous)
arms (batwing)
buttock
thighs (trochanteric lipomatosis)
Excludes : breast (85.31-85.32)
86.87 Fat graft to skin and subcutaneous tissue
86 Operations on skin and subcutaneous tissue

86.8 Other repair and reconstruction of skin and subcutaneous ti

85.55 Fat graft to breast

86.83 Size reduction plastic operation
86.87 Fat graft to skin and subcutaneous tissue
86.90 Extraction of fat for graft or banking
E66 Obesity
Excludes : adiposogenital dystrophy (E23.6)
lipomatosis :
• NOS (E88.2)
• dolorosa [Dercum] (E88.2)
Prader-Willi syndrome (Q87.1)
E66 Obesity
Excludes : adiposogenital dystrophy (E23.6)
lipomatosis :
• NOS (E88.2)
• dolorosa [Dercum] (E88.2)
Prader-Willi syndrome (Q87.1)
E66 Obesity

E66.0 Obesity due to excess calories

E66.1 Drug-induced obesity
Use additional external cause code (Chapter XX), if desired, to identify
drug.
E66.2 Extreme obesity with alveolar hypoventilation
Pickwickian syndrome

Hypoventilation Syndrome / OHS

adalah suatu kondisi yang terjadi
pada orang gemuk, dimana
kesulitan bernafas yang
menyebabkan kadar oksigen
lebih rendah daripada kadar
karbon dioksida dalam darah
E66.8 Other obesity
Morbid obesity
Obesitas morbid adalah kondisi di mana terjadi penimbunan
lemak yang sangat tinggi di dalam tubuh, sehingga
penderitanya memiliki berat badan berlebih yang jauh dari
ukuran ideal

E66.9 Obesity, unspecified

Simple obesity NOS
 E67 Other hyperalimentation
Excludes : hyperalimentation NOS (R63.2)
sequelae of hyperalimentation (E68)
E67.0 Hypervitaminosis A
E67.1 Hypercarotenaemia

Hypercarotenemia / carotenemia / xanthosis

adalah kondisi yang ditandai dengan pigmentasi kuning
pada kulit (xanthoderma) dan peningkatan kadar beta
karoten dlm darah
Hypercarotenaemia
R63 Symptoms and signs concerning food and fluid intake

R63.2 Polyphagia
Excessive eating
Hyperalimentation NOS
 E67.2 Megavitamin-B6 syndrome
Seven young adults developed ataxia and sensory
nervous system dysfunction after daily ingestion of 2–6
grams of pyridoxine for 2 to 40 months.

E67.3 Hypervitaminosis D

E68 Sequelae of hyperalimentation

Metabolic disorders
(E70–E90)
Excludes : androgen resistance syndrome (E34.5)
congenital adrenal hyperplasia (E25.0)
Ehlers-Danlos syndrome (Q79.6)
haemolytic anaemias due to enzyme disorders (D55.-)
Marfan's syndrome (Q87.4)
5-alpha-reductase deficiency (E29.1)
METABOLISME

Merupakan seluruh reaksi kimia yang ada atau terjadi pada

suatu organisme hingga tingkat yang paling kecil atau
seluler.

Metabolisme juga merupakan suatu proses pembuatan atau

pembentukan energi yang diperlukan oleh tubuh pada
makhluk hidup.
METABOLISME

Katabolisme
suatu proses pemecahan atau penguraian senyawa dari
kompleks menjadi senyawa yang lebih sederhana

Anabolisme
suatu proses pembentukan atau penyusunan senyawa
yang sederhana menjadi senyawa kompleks atau
makromolekul.
METABOLISME

Metabolisme Karbohidrat

Metabolisme Protein

Metabolisme Lemak
Metabolisme karbohidrat
adalah proses kimia yang berlangsung dalam tubuh makhluk hidup
untuk mengolah karbohidrat, baik itu reaksi pemecahan
(katabolisme) maupun reaksi pembentukan (anabolisme)

Bentuk karbohidrat terpenting adalah glukosa, yaitu suatu senyawa

gula sederhana (monosakarida), dipahami ada terdapat di setiap
makhluk hidup untuk proses metabolisme ini.
Metabolisme karbohidrat

Semua bentuk karbohidrat kurang lebih memiliki rumus

kimia CnH2nOn .

Rumus kimia glukosa adalah C6H12O6. Setiap molekul

monosakarida bisa membentuk senyawa disakarida,
contohnya sukrosa, ataupun senyawa polisakarida yang
lebih panjang, contohnya pati and selulosa.
Gula / sucrose C12H22O11
Gula / sucrose C12H22O11
monosakarida : glukosa,fruktosa, galaktosa
disakarida : fruktosa, maltosa, laktosa
poliskarida : pati, selullosa, glikogen
Metabolisme protein
Proses fisik dan kimia yang menyebabkan baik
pembentukan atau sintesis, asam amino menjadi protein
dan pemecahan, atau katabolisme, protein menjadi asam
amino

Protein adalah molekul kompleks yang besar dan

memainkan peran penting dalam tubuh kita.

Protein ini bekerja dalam sel serta organel sel, dan

dibutuhkan sebagai struktur, fungsi dan pengaturan organ
dan jaringan tubuh
Asam amino
Bagi manusia, ada delapan (ada yang menyebut sembilan) asam
amino esensial yang harus dipenuhi dari diet sehari-hari, yaitu :

Isoleusina, Metiona
Leusina, Fenilalanine
Lisina, Treonine
triptofan dan valina

Histidina dan arginina disebut sebagai "setengah esensial" karena

tubuh manusia dewasa sehat mampu memenuhi kebutuhannya.
Protein berperan penting dalam struktur dan fungsi semua sel
makhluk hidup
Metabolisme lipid (lemak)
adalah proses dimana asam lemak dicerna, dipecah untuk
energi, atau disimpan dalam tubuh manusia untuk
penggunaan energi dimasa depan.

Asam lemak ini merupakan komponen trigliserida, yang

membentuk sebagian besar lemak makan dalam makanan
seperti minyak nabati dan produk hewani
Fungsi lipid :

1. Sebagai penyusun struktur membran sel , sebagai barier

untuk sel dan mengatur aliran material-material.

2. Sebagai cadangan energi, disimpan sebagai jaringan

adiposa

3. Sebagai hormon dan vitamin

Jenis-jenis lipid yaitu :

1. Asam lemak, terdiri atas asam lemak jenuh dan asam

lemak tak jenuh

2. Gliserida, terdiri atas gliserida netral dan fosfogliserida

(monogliserida, digliserida dan trigliserida )
3. Lipid kompleks, terdiri atas lipoprotein dan glikolipid
Trigliserida
adalah salah satu jenis lemak yang banyak ditemukan di
dalam darah.
Lemak dari makanan yang dikonsumsi akan dipecah dan
diubah menjadi energi.
Setiap lemak yang tidak digunakan tubuh, akan diubah
menjadi trigliserida dan disimpan di sel lemak
jenis lemak dalam darah yang dapat mempengaruhi kadar kolesterol
Trigliserida dan kolesterol

sama-sama merupakan lemak yang beredar dalam tubuh,

tetapi jenisnya berbeda.

Fungsinya pun berbeda. Jika trigliserida menghasilkan

energi, maka kolesterol digunakan untuk membangun sel-
sel tubuh dan hormon
Dikenal enam jenis lipoprotein :

1. High Density Lipoprotein ( HDL )

2. Low Density Lipoprotein ( LDL )

3. Intermediate Density Lipoprotein ( IDL )

4. Very Low Density Lipoprotein ( VLDL )

Metabolic disorders
(E70–E90)
Excludes : androgen resistance syndrome (E34.5)
congenital adrenal hyperplasia (E25.0)
Ehlers-Danlos syndrome (Q79.6)
haemolytic anaemias due to enzyme disorders (D55.-)
Marfan's syndrome (Q87.4)
5-alpha-reductase deficiency (E29.1)
Metabolic disorders
Occur when a defective gene causes an enzyme
deficiency.

These diseases, of which there are many subtypes, are

known as inborn errors of metabolism.

Metabolic diseases can also occur when the liver or

pancreas do not function properly
 E70 Disorders of aromatic amino-acid
metabolism
Aromatic amino acids include phenylalanine, tyrosine, and
tryptophan, of which phenylalanine and tyrosine have a
similar structure, and phenylalanine can be converted into
tyrosinase.
Phenylalanine → Tyrosine → L-DOPA → (Dopamine) → (Norepinephrine) → (Epinephrin

Tryptophan → 5-hydroxytryptophan → (Serotonin)

Phenylalanine → Tyrosine → Thyroxine

E70 Disorders of aromatic amino-acid metabolism
E70.0 Classical phenylketonuria
E70.1 Other hyperphenylalaninaemias

Phenylketonuria (PKU) adalah gangguan autosomal

genetis yang dikenali dengan kurangnya enzim
phenylalanine hidroksilase (PAH)
E70 Disorders of aromatic amino-acid metabolism
E70.2 Disorders of tyrosine metabolism
Alkaptonuria
Hypertyrosinaemia
Ochronosis
Tyrosinaemia
Tyrosinosis

Phenylalanine → Tyrosine → Thyroxine

 E70.3 Albinism
Albinism :
• ocular
• oculocutaneous
Syndrome :
• Chediak(-Steinbrinck)-Higashi
• Cross
• Hermansky-Pudlak
In melanocytes, tyrosine can form dopa with the catalyzation of
tyrosinase, and dopa is oxidized to form dopaquinone that
generating into the pathways of synthesizing melanin.
Phenylalanine → Tyrosine → L-DOPA → (Dopamine) → (Norepinephrine) → (Epinephrin
Albinisme
adalah suatu kelainan pada produksi melanin yang
menyebabkan penderitanya kekurangan melanin atau sama
sekali tidak memiliki pigmen tersebut.

In melanocytes, tyrosine can form dopa with the catalyzation

of tyrosinase, and dopa is oxidized to form dopaquinone that
generating into the pathways of synthesizing melanin
Albinisme
Kondisi ini mengakibatkan warna rambut, kulit, dan mata
penderita terlihat sangat pucat atau cenderung putih.
E70.3 Albinism
Albinism :
• ocular
• oculocutaneous
Syndrome :
• Chediak(-Steinbrinck)-Higashi
• Cross
• Hermansky-Pudlak
Chédiak–Higashi syndrome

is a rare autosomal recessive disorder

that arises from a mutation of a
lysosomal trafficking regulator protein,
which leads to a decrease in
phagocytosis.

The decrease in phagocytosis results

in recurrent pyogenic infections,
albinism and peripheral neuropathy.
 People with Chédiak–Higashi syndrome / CHS

Have light skin and silvery hair (albinism) and frequently complain of
solar sensitivity and photophobia. Other signs and symptoms vary
considerably, but frequent infections and neuropathy are common

Features of Chédiak-Higashi syndrome :

partial albinism and grayish hair
E70.8 Other disorders of aromatic amino-acid metabolism
Disorders of :
• histidine metabolism
• tryptophan metabolism

There are two known disorders of histidine metabolism: histidinemia and

urocanic aciduria.
Histidinemia is one of the most frequent and well known of the inborn errors of
metabolism.

E70.9 Disorder of aromatic amino-acid metabolism, unspecified

 Histidine metabolism

E70.9 Disorder of aromatic amino-acid metabolism, unspecified

E71 Disorders of branched-chain amino-acid metabolism and
fatty - acid metabolism

E71.0 Maple-syrup-urine disease

Defisiensi enzim BCKD dapat menyebabkan menumpuknya asam amino

dalam tubuh.

Hal ini berakibat pada kerusakan saraf dan urine penderita beraroma
seperti sirup.

Kompleks enzim BCKD memiliki subunit E1-α yang disandikan oleh

gen Branched Chain Ketoacid Dehydrogenase E1-α Polypeptide
(BCKDHA)
E71.1 Other disorders of branched-chain amino-acid metabolism
Hyperleucine-isoleucinaemia
Hypervalinaemia
Isovaleric acidaemia
Methylmalonic acidaemia
Propionic acidaemia
E71.2 Disorder of branched-chain amino-acid metabolism,
unspecified
E71.3 Disorders of fatty-acid metabolism
Adrenoleukodystrophy [Addison-Schilder]
Muscle carnitine palmityltransferase deficiency
Excludes : Refsum's disease (G60.1)
Schilder's disease (G37.0)
Zellweger's syndrome (Q87.8)
Adrenoleukodystrophy
is a rare genetic disease characterized by a loss of myelin
surrounding nerve cells in the brain and progressive adrenal gland
dysfunction.
E72 Other disorders of amino-acid metabolism
Excludes : abnormal findings without manifest disease (R70–R89)
disorders of:
• aromatic amino-acid metabolism (E70.-)
• branched-chain amino-acid metabolism (E71.0–E71.2)
• fatty-acid metabolism (E71.3)
• purine and pyrimidine metabolism (E79.-)
gout (M10.-)
E72.0 Disorders of amino-acid transport
Cystinosis
Cystinuria
Fanconi(-de Toni)(-Debré) syndrome
Hartnup's disease
Lowe's syndrome
Excludes : disorders of tryptophan metabolism (E70.8)
E72.0 Disorders of amino-acid transport

are medical conditions associated with a

failure of amino acids to be absorbed from
the kidney or intestine
E72.1 Disorders of sulfur-bearing amino-acid metabolism
Cystathioninuria
Homocystinuria
Methioninaemia
Sulfite oxidase deficiency
Excludes:transcobalamin II deficiency (D51.2)

E72.2 Disorders of urea cycle metabolism

Argininaemia
Argininosuccinic aciduria
Citrullinaemia
Hyperammonaemia
Excludes:disorders of ornithine metabolism (E72.4)
 Urea cycle

OTC Ornithine transcarbamoylase ASS argininosuccinate synthetase

ASL argininosuccinate lyase ARG1 arginase 1
E72.3 Disorders of lysine and hydroxylysine metabolism
Glutaric aciduria
Hydroxylysinaemia
Hyperlysinaemia
E72.4 Disorders of ornithine metabolism
Ornithinaemia (types I, II)
E72.5 Disorders of glycine metabolism
Hyperhydroxyprolinaemia
Hyperprolinaemia (types I, II)
Non-ketotic hyperglycinaemia
Sarcosinaemia
E72.8 Other specified disorders of amino-acid metabolism
Disorders of :
• beta-amino-acid metabolism
• gamma-glutamyl cycle
E72.9 Disorder of amino-acid metabolism, unspecified
E73 Lactose intolerance

Adalah ketidakmampuan seseorang untuk mencerna

laktosa.
Laktosa adalah jenis gula yang terdapat dalam susu dan
produk susu.
Laktase memecah laktosa menjadi dua bentuk gula yang
lebih sederhana : glukosa dan galaktosa.
Tubuh kemudian menyerap gula sederhana ini ke dalam
aliran darah
E73 Lactose intolerance
E73.0 Congenital lactase deficiency
Bayi yang lahir dengan kondisi tidak dapat menghasilkan
laktase sama sekali.
E73.1 Secondary lactase deficiency
Jenis ini merupakan akibat dari kerusakan pada usus, seperti
penyakit parah
E73.8 Other lactose intolerance
E73.9 Lactose intolerance, unspecified
E74 Other disorders of carbohydrate metabolism
Excludes : increased secretion of glucagon (E16.3)
diabetes mellitus (E10–E14)
hypoglycaemia NOS (E16.2)
mucopolysaccharidosis (E76.0–E76.3)
E74 Other disorders of carbohydrate metabolism
E74.0 Glycogen storage disease
Cardiac glycogenosis
Disease :
• Andersen
• Cori
• Forbes
• Hers
• McArdle
• Pompe
• Tauri
• von Gierke
Liver phosphorylase deficiency
GSD Glycogen Storage Disease / GSD
Penyakit gangguan penyimpanan glikogen
Sinonin : Debrancher Defisiensi
Penyakit Cori
Penyakit Forbes
Dextrinosis.
Penyakit ini disebabkan oleh kekurangan enzim pemecah cabang / rantai
glikogen (GDE=glycogen debranching enzyme) sehingga menyebabkan
gangguan pada metabolism glikogen.
GDE adalah enzim yang memiliki fungsi sebagai enzim katalis dan
merupakan enzim kunci pada metabolisme karbohidrat.
Andersen disease (GSD) type IV.
It is caused by deficient activity of the glycogen-branching
enzyme, resulting in accumulation of abnormal glycogen in
the liver, muscle, and/or other tissues.

In most affected individuals, symptoms and findings become

evident in the first months of life.
E74.1 Disorders of fructose metabolism
Essential fructosuria
Fructose-1,6-diphosphatase deficiency
Hereditary fructose intolerance
E74.2 Disorders of galactose metabolism
Galactokinase deficiency
Galactosaemia
E74.3 Other disorders of intestinal carbohydrate absorption
Glucose-galactose malabsorption
Sucrase deficiency
Excludes : lactose intolerance (E73.-)
E74.4 Disorders of pyruvate metabolism and gluconeogenesis
Deficiency of :
• phosphoenolpyruvate carboxykinase
• pyruvate :
• carboxylase
• dehydrogenase
Excludes: with anaemia (D55.-)
E74.8 Other specified disorders of carbohydrate metabolism
Essential pentosuria
Oxalosis
Oxaluria
Renal glycosuria
E74.9 Disorder of carbohydrate metabolism, unspecified
E75 Disorders of sphingolipid metabolism and other lipid
storage disorders
Excludes: mucolipidosis, types I-III (E77.0–E77.1)
Refsum's disease (G60.1)

Sphingolipid / Glycosphingolipids are essential for

development and survival of multicellular organisms
 E75.0 GM2 gangliosidosis
Disease :
• Sandhoff
• Tay-Sachs
GM2 gangliosidosis :
• NOS
• adult
• juvenile
E75.1 Other gangliosidosis
Gangliosidosis :
• NOS
• GM1
• GM3
Mucolipidosis IV
E75.2 Other sphingolipidosis
Disease :
• Fabry(-Anderson)
• Gaucher
• Krabbe
• Niemann-Pick
Farber's syndrome
Metachromatic leukodystrophy
Sulfatase deficiency
Excludes:adrenoleukodystrophy [Addison-Schilder] (E71.3)

E75.3 Sphingolipidosis, unspecified

E75.4 Neuronal ceroid lipofuscinosis
Disease :
• Batten
• Bielschowsky-Jansky
• Kufs
• Spielmeyer-Vogt
E75.5 Other lipid storage disorders
Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein]
Wolman's disease
E75.6 Lipid storage disorder, unspecified
E76 Disorders of glycosaminoglycan metabolism
Glucosamine adalah bahan kimia alami yang ditemukan dalam
cairan yang mengelilingi sendi dalam tubuh

E76.0 Mucopolysaccharidosis, type I

Syndrome:
• Hurler
• Hurler-Scheie
• Scheie
E76.1 Mucopolysaccharidosis, type II
Hunter's syndrome
E76.2 Other mucopolysaccharidoses
Beta-glucuronidase deficiency
Mucopolysaccharidosis, types III, IV, VI, VII
Syndrome :
• Maroteaux-Lamy (mild)(severe)
• Morquio(-like)(classic)
• Sanfilippo (type B)(type C)(type D)
E76.3 Mucopolysaccharidosis, unspecified
E76.8 Other disorders of glucosaminoglycan metabolism
E76.9 Disorder of glucosaminoglycan metabolism, unspecified
E77 Disorders of glycoprotein metabolism
E77.0 Defects in post-translational modification of lysosomal enzyme
Mucolipidosis II [I-cell disease]
Mucolipidosis III [pseudo-Hurler polydystrophy]
E77.1 Defects in glycoprotein degradation
Aspartylglucosaminuria
Fucosidosis
Mannosidosis
Sialidosis [mucolipidosis I]
E77.8 Other disorders of glycoprotein metabolism
E77.9 Disorder of glycoprotein metabolism, unspecified
E78 Disorders of lipoprotein metabolism and other lipidaem
Excludes : sphingolipidosis (E75.0–E75.3)

E78.0 Pure hypercholesterolaemia

Familial hypercholesterolaemia
Fredrickson's hyperlipoproteinaemia, type Iia
Hyperbetalipoproteinaemia
Hyperlipidaemia, group A
Low-density-lipoprotein-type [LDL] hyperlipoproteinaemia
E78.1 Pure hyperglyceridaemia
Endogenous hyperglyceridaemia
Fredrickson's hyperlipoproteinaemia, type IV
Hyperlipidaemia, group B
Hyperprebetalipoproteinaemia
Very-low-density-lipoprotein-type [VLDL] hyperlipoproteinaemia
E78.2 Mixed hyperlipidaemia
Broad- or floating-betalipoproteinaemia
Fredrickson's hyperlipoproteinaemia, type IIb or III
Hyperbetalipoproteinaemia with prebetalipoproteinaemia
Hypercholesterolaemia with endogenous hyperglyceridaemia
Hyperlipidaemia, group C
Tubero-eruptive xanthoma
Xanthoma tuberosum
Excludes: cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein] (E75.5)
E78.3 Hyperchylomicronaemia
Fredrickson's hyperlipoproteinaemia, type I or V
Hyperlipidaemia, group D
Mixed hyperglyceridaemia
E78.4 Other hyperlipidaemia
Familial combined hyperlipidaemia
E78.5 Hyperlipidaemia, unspecified
E78.6 Lipoprotein deficiency
Abetalipoproteinaemia
High-density lipoprotein deficiency
Hypoalphalipoproteinaemia
Hypobetalipoproteinaemia (familial)
Lecithin cholesterol acyltransferase deficiency
Tangier disease
E78.8 Other disorders of lipoprotein metabolism
E78.9 Disorder of lipoprotein metabolism, unspecified
E79 Disorders of purine and pyrimidine metabolism
Excludes : calculus of kidney (N20.0)
combined immunodeficiency disorders (D81.-)
gout (M10.-)
orotaciduric anaemia (D53.0)
xeroderma pigmentosum (Q82.1)

Keberadaan enzim xanthine oxidase

menjadi sangat penting dalam
metabolisme purin, karena mengubah
hipoksantin menjadi xanthine, dan
kemudian xanthine menjadi asam urat
E79 Disorders of purine and pyrimidine metabolism

E79.0 Hyperuricaemia without signs of inflammatory arthritis and

tophaceous disease
Asymptomatic hyperuricaemia
E79.1 Lesch-Nyhan syndrome
E79.8 Other disorders of purine and pyrimidine metabolism
Hereditary xanthinuria
E79.9 Disorder of purine and pyrimidine metabolism, unspecified
E80 Disorders of porphyrin and bilirubin metabolism
Includes: defects of catalase and peroxidase
E80.0 Hereditary erythropoietic porphyria
Congenital erythropoietic porphyria
Erythropoietic protoporphyria
E80.1 Porphyria cutanea tarda
E80.2 Other porphyria
Hereditary coproporphyria
Porphyria :
• NOS
• acute intermittent (hepatic)
Use additional external cause code (Chapter XX), if desired, to identify cause.
Bilirubin
Is the principal component of bile pigments, is the end product of the
catabolism of the heme moiety of hemoglobin and other
hemoproteins,

When bilirubin is produced in excessive amounts, or when hepatic

excretion of bilirubin into bile is defective, the concentration of
bilirubin in the blood and tissues increases.

Jaundice is recognized if the accumulation of bilirubin in the sclerae

and skin is of sufficient quantity to be visible
E80.3 Defects of catalase and peroxidase
Acatalasia [Takahara]
E80.4 Gilbert's syndrome
In Gilbert's syndrome, there is a deficiency of glucoronyl
transferase enzyme
Sign and symptom:
1. Most patients are asymptomatic.
2. The onset is shortly after the birth but may be unnoticed for many years.
3. There may be yellowness of the eyes and the skin in some cases.
4. The most common finding is the presence of jaundice due to raised
bilirubin. This bilirubin is usually <3 mg/dL.
5. The bilirubin level fluctuates and even some time may be normal. When
these patients are followed then 25% may shows normal values.
6. There may be fatigue.
yellowness of the eyes and the skin  jaundice due to raised bilirubin.

99.82 Ultraviolet light therapy

Actinotherapy
99.83 Other phototherapy
Phototherapy of the newborn
Excludes: extracorporeal
photochemotherap (99.88)
photocoagulation of retinal lesion
E80.5 Crigler-Najjar syndrome
E80.6 Other disorders of bilirubin metabolism
Dubin-Johnson syndrome
Rotor's syndrome
E80.7 Disorder of bilirubin metabolism, unspecified
38.9 Puncture of vessel
38.91 Arterial catheterization
38.92 Umbilical vein catheterization
38.93 Venous catheterization, not elsewhere classified
38.94 Venous cutdown
38.95 Venous catheterization for renal dialysis
38.98 Other puncture of artery
38.99 Other puncture of vein ®
Phlebotomy
Phlebotomi (bahasa inggris : phlebotomy)
berasal dari kata Yunani phleb dan tomia.Phleb berarti pembuluh darah vena
dan tomia berarti mengiris/memotong(cutting).Dulu dikenal istilah vena sectie,
venesection atau veni section. Teknik lebotomimerupakan suatu cara
pengambilan darah (sampling) untuk tu!uan tes laboratorium

Venous cutdown
is an emergency procedure in which the vein is exposed surgically and
then a cannula is inserted into the vein under direct vision. It is used to get
vascular access in trauma and hypovolemic shock patients when peripheral
cannulation is difficult or impossible.
E83 Disorders of mineral metabolism
Excludes : dietary mineral deficiency (E58–E61)
parathyroid disorders (E20–E21)
vitamin D deficiency (E55.-)
E83.0 Disorders of copper metabolism
Menkes' (kinky hair)(steely hair) disease
Wilson's disease
E83.1 Disorders of iron metabolism
Haemochromatosis
Excludes : anaemia :
• iron deficiency (D50.-)
• sideroblastic (D64.0–D64.3)
Hemokromatosis (Hemochromatosis)

adalah kondisi dimana tubuh menyerap dan menimbun zat

besi secara berlebihan dari makanan yang dikonsumsi.
Proses penyerapan dan penimbunan ini berlangsung selama
bertahun-tahun dan dapat mengakibatkan kerusakan pada
ginjal, sendi, pankreas, dan jantung, serta menimbukan
kematian jika tidak ditangani.
 Haemochromatosis

50.11 Closed (percutaneous) [needle] biopsy of liver

Diagnostic aspiration of liver
50.91 Percutaneous aspiration of liver
Excludes: percutaneous biopsy (50.11)
Arthritis of the hand.
E83.2 Disorders of zinc metabolism
Acrodermatitis enteropathica
E83.3 Disorders of phosphorus metabolism
Acid phosphatase deficiency
Familial hypophosphataemia
Hypophosphatasia
Vitamin-D-resistant :
• osteomalacia
• rickets
Excludes : adult osteomalacia (M83.-)
osteoporosis (M80–M81)
E83.4 Disorders of magnesium metabolism
Hypermagnesaemia
E83.5 Disorders of calcium metabolism
Familial hypocalciuric hypercalcaemia
Idiopathic hypercalciuria
Excludes : chondrocalcinosis (M11.1–M11.2)
hyperparathyroidism (E21.0–E21.3)
E83.8 Other disorders of mineral metabolism
E83.9 Disorder of mineral metabolism, unspecified
E84 Cystic fibrosis
Includes: mucoviscidosis
E84.0 Cystic fibrosis with pulmonary manifestations
E84.1 Cystic fibrosis with intestinal manifestations
Meconium ileus† (P75*)
Excludes : meconium obstruction in cases where cystic
fibrosis is known not to be present (P76.0)
E84.8 Cystic fibrosis with other manifestations
Cystic fibrosis with combined manifestations
E84.9 Cystic fibrosis, unspecified
E85 Amyloidosis
Excludes : Alzheimer's disease (G30.-)
E85.0 Non-neuropathic heredofamilial amyloidosis
Familial Mediterranean fever
Hereditary amyloid nephropathy
E85.1 Neuropathic heredofamilial amyloidosis
Amyloid polyneuropathy (Portuguese)
E85.2 Heredofamilial amyloidosis, unspecified
E85.3 Secondary systemic amyloidosis
Haemodialysis-associated amyloidosis
E85.4 Organ-limited amyloidosis
Localized amyloidosis
E85.8 Other amyloidosis
E85.9 Amyloidosis, unspecified
E86 Volume depletion
Dehydration
Depletion of volume of plasma or extracellular fluid
Hypovolaemia
Excludes : dehydration of newborn (P74.1)
hypovolaemic shock :
• NOS (R57.1)
• postoperative (T81.1)
• traumatic (T79.4)
E87 Other disorders of fluid, electrolyte and acid-base balance
Fluid status,
electrolyte homeostasis, and acid-base balance are clinical
parameters of critical significance in surgical patients.

89.60 Continuous intra-arterial blood gas monitoring

Insertion of blood gas monitoring system and continuous
monitoring of blood gases through an intra-arterial sensor
E87 Other disorders of fluid, electrolyte and acid-base balance
E87.0 Hyperosmolality and hypernatraemia
Sodium [Na] excess
Sodium [Na] overload
E87.1 Hypo-osmolality and hyponatraemia
Sodium [Na] deficiency
Excludes: Syndrome of inappropriate secretion of antidiuretic hormone (E22.2)
E87.2 Acidosis
Acidosis :
• NOS
• lactic
• metabolic
• respiratory
Excludes : diabetic acidosis (E10–E14 with common fourth character .1)
E87.3 Alkalosis
Alkalosis :
• NOS
• metabolic
• respiratory
E87.4 Mixed disorder of acid-base balance
E87.5 Hyperkalaemia
Potassium [K] excess
Potassium [K] overload
E87.6 Hypokalaemia
Potassium [K] deficiency
E87.7 Fluid overload
Excludes: oedema (R60.-)
E87.8 Other disorders of electrolyte and fluid balance, not elsewhere
classified
Electrolyte imbalance NOS
Hyperchloraemia
Hypochloraemia
E88 Other metabolic disorders
Use additional external cause code (Chapter XX), if desired, to identify drug, if
drug-induced.
Excludes : histiocytosis X (chronic) (D76.0)
E88.0 Disorders of plasma-protein metabolism, not elsewhere classified
Alpha-1-antitrypsin deficiency
Bisalbuminaemia
Excludes : disorder of lipoprotein metabolism (E78.-)
monoclonal gammopathy (D47.2)
polyclonal hypergammaglobulinaemia (D89.0)
Waldenström's macroglobulinaemia (C88.0)
E88.1 Lipodystrophy, not elsewhere classified
Lipodystrophy NOS
Excludes : Whipple's disease (K90.8)
E88.2 Lipomatosis, not elsewhere classified
Lipomatosis :
• NOS
• dolorosa [Dercum]

Adiposis dolorosa,
also known as Dercum's disease or Anders disease, is a rare
condition characterized by generalized obesity and fatty tumors
in the adipose tissue.
The tumors are normally painful and found in multiples on the
extremities
transcutaneous frequency rhythmic electrical modulation system (FREMS).
E88.2 Lipomatosis, not elsewhere classified
Lipomatosis :
• NOS
• dolorosa [Dercum]
E88.8 Other specified metabolic disorders
Launois-Bensaude adenolipomatosis
Trimethylaminuria
E88.9 Metabolic disorder, unspecified
E89 Postprocedural endocrine and metabolic disorders, not
elsewhere classified
E89.0 Postprocedural hypothyroidism
Postirradiation hypothyroidism
Postsurgical hypothyroidism
E89.1 Postprocedural hypoinsulinaemia
Postpancreatectomy hyperglycaemia
Postsurgical hypoinsulinaemia
E89.2 Postprocedural hypoparathyroidism
Parathyroprival tetany

FIN 2
 E89.3 Postprocedural hypopituitarism
Postirradiation hypopituitarism
E89.4 Postprocedural ovarian failure
E89.5 Postprocedural testicular hypofunction
E89.6 Postprocedural adrenocortical (-medullary) hypofunction
E89.8 Other postprocedural endocrine and metabolic disorders
E89.9 Postprocedural endocrine and metabolic disorder,
unspecified

FIN 1
PERTANYAAN ?
Lipoprotein adalah partikel khusus yang terdiri dari butiran lemak
yang dikelilingi oleh lapisan fosfolipid. Fosfolipid adalah molekul
lemak yang melekat pada kelompok yang mengandung fosfor.

Triglyceride

Trigliserida adalah jenis lemak dalam darah yang dapat mempengaruhi kadar kolesterol dalam darah.

Trigliserida adalah salah satu jenis lemak yang banyak

ditemukan di dalam darah. ... Lemak dari makanan yang
dikonsumsi akan dipecah dan diubah menjadi energi.
Setiap lemak yang tidak digunakan tubuh, akan diubah
menjadi trigliserida dan disimpan di sel lemak
 Adapun jika satuan monosakaridanya adalah gula heksosa
(C6H12O6) maka polisakarida tersebut dikelompokkan sebagai
heksosan (C6H10O5)x.
Polisakarida adalah senyawa dari beberapagula
sederhana yang dihubungkan dalam ikatan glikosida.

Monosakarida (dari Bahasa Yunani mono: satu, sacchar: gula)

adalah senyawa karbohidrat dalam bentuk gula yang paling
sederhana
The urea cycle (also known as the ornithine cycle) is a cycle
of biochemical reactions that produces urea (NH2)2CO from
ammonia (NH3). This cycle occurs in ureotelic organisms. The
urea cycle converts highly toxic ammonia to urea for
excretion.[1] This cycle was the first metabolic cycle to be
discovered (Hans Krebs and Kurt Henseleit, 1932), five years
before the discovery of the TCA cycle. The urea cycle takes
place primarily in the liver and, to a lesser extent, in the
kidneys.

tricarboxylic acid cycle, TCA

Disorders of epithelial transport affecting intestinal and renal
transport
Proteins are broken down by in the intestine into amino acids, di- and
tripeptides.
A variety of amino acid transporters take up these amino acids into
epithelial cells lining the intestine and pass them into the blood stream.
In the kidney amino acids are filtered and then reabsorbed to avoid
wasting of valuable nutrients.
Often the transporters in the kidney are the same as in the intestine.
A number of disorders are associated with defects in the epithelial
transport of amino acids, such as Hartnup disorder, iminoglycinuria
and dicarboxylic aminoaciduria.