Deficiency, deficient
3-beta hydroxysteroid dehydrogenase
E25.0 5-alpha reductase (with male pseudohermaphroditism)
E29.1 AADC (aromatic L-amino acid decarboxylase)
E70.81 ABCC6
causing generalized arterial calcification of infancy
E83.823 abdominal muscle syndrome
Q79.4 accelerator globulin (Ac G) (blood)
D68.2 AC globulin (congenital) (hereditary)
D68.2 acid sphingomyelinase (ASMD)
E75.249 type
activating factor (blood)
D68.2 ADA2 (adenosine deaminase 2)
D81.32 adenosine deaminase (ADA)
D81.30 with severe combined immunodeficiency (SCID)
D81.31 type 1 (without SCID) (without severe combined immunodeficiency)
D81.39 anemia see Anemia
antibody with
hyperimmunoglobulinemia
D80.6 near-normal immunoglobins
D80.6 antidiuretic hormone
E23.2 anti-hemophilic
antithrombin (antithrombin III)
D68.59 aromatic L-amino acid decarboxylase (AADC)
E70.81 attention (disorder) (syndrome)
F98.8 with hyperactivity see Disorder, attention-deficit hyperactivity
autoprothrombin
biotin-dependent carboxylase
D81.819 brancher enzyme (amylopectinosis)
E74.03 with
rickets see Rickets
cardiac see Insufficiency, myocardial
due to
CD73 deficiency causing arterial calcification
E83.825 chronic neurovisceral acid sphingomyelinase
E75.244 chronic visceral acid sphingomyelinase
E75.241 clotting (blood)
D68.9 see also Deficiency, coagulation factor clotting factor NEC (hereditary)
D68.2 see also Deficiency, factor with
antepartum hemorrhage see Hemorrhage, antepartum, with coagulation defect
clotting factor NEC
D68.2 see also Deficiency, factor due to
hyperprothrombinemia
D68.4 vitamin K deficiency
D68.4 combined glucocorticoid and mineralocorticoid
E27.49 copper (nutritional)
E61.0 C1 esterase inhibitor (C1-INH)
D84.1 debrancher enzyme (limit dextrinosis)
E74.03 dehydrogenase
long chain/very long chain acyl CoA
E71.310 dihydropyrimidine dehydrogenase (DPD)
E88.89 edema see Malnutrition, severe
energy-supply see Malnutrition
ENPP1
causing
autosomal recessive hypophosphatemic rickets type 2
E83.822 generalized arterial calcification of infancy
E83.821 enzymes, circulating NEC
E88.09 with
rickets see Rickets
essential fatty acid (EFA)
E63.0 eye movements
factor see also Deficiency, coagulation
I (congenital) (hereditary)
D68.2 II (congenital) (hereditary)
D68.2 IX (congenital) (functional) (hereditary) (with functional defect)
D67 multiple (congenital)
D68.8 V (congenital) (hereditary)
D68.2 VII (congenital) (hereditary)
D68.2 VIII (congenital) (functional) (hereditary) (with functional defect)
D66 with vascular defect see Disease, von Willebrand
X (congenital) (hereditary)
D68.2 XI (congenital) (hereditary)
D68.1 XII (congenital) (hereditary)
D68.2 XIII (congenital) (hereditary)
D68.2 femoral, proximal focal (congenital) see Defect, reduction, lower limb, longitudinal, femur
fibrin-stabilizing factor (congenital) (hereditary)
D68.2 fibrinogen (congenital) (hereditary)
D68.2 fructose 1,6-diphosphatase
E74.19 fructose-1-phosphate aldolase
E74.19 GABA (gamma aminobutyric acid) transaminase
E72.81 GABA-T (gamma aminobutyric acid transaminase)
E72.81 galactose-1-phosphate uridyl transferase
E74.29 gammaglobulin in blood
D80.1 glucose-6-phosphate dehydrogenase
glucose transporter protein type 1
E74.810 glucuronyl transferase
E80.5 gonadotropin (isolated)
E23.0 growth hormone (idiopathic) (isolated)
E23.0 homogentisate 1,2-dioxygenase
E70.29 hormone
anterior pituitary (partial) NEC
E23.0 hypoxanthine- (guanine)-phosphoribosyltransferase (HG- PRT) (total H-PRT)
E79.1 with thrombocytopenia and eczema
D82.0 immuno see Immunodeficiency
immunoglobulin, selective
G (IgG) (subclasses)
D80.3 infantile neurovisceral acid sphingomyelinase
E75.240 inositol (B complex)
E53.8 intrinsic
factor (congenital)
D51.0 with urethral hypermobility
N36.43 congenital syndrome see Syndrome, iodine-deficiency, congenital
labile factor (congenital) (hereditary)
D68.2 lacrimal fluid (acquired) see also Syndrome, dry eye
lactase
LCAD (long chain acyl CoA dehydrogenase deficiency)
E71.310 lecithin cholesterol acyltransferase
E78.6 leukocyte adhesion (LAD-I) (LAD-II) (LAD-III)
D71.1 lipoprotein (familial) (high density)
E78.6 lysosomal alpha-1, 4 glucosidase
E74.02 lysosome-associated membrane protein 2 [LAMP2]
E74.05 major histocompatibility complex
MCAD (medium chain acyl CoA dehydrogenase deficiency)
E71.311 menadione (vitamin K)
E56.1 mental (familial) (hereditary) see Disability, intellectual
methylenetetrahydrofolate reductase (MTHFR)
E72.12 molybdenum (nutritional)
E61.5 multiple nutrient elements
E61.7 multiple sulfatase (MSD)
E75.26 muscle
carnitine (palmityltransferase)
E71.314 myoadenylate deaminase
E79.2 myocardial see Insufficiency, myocardial
NADH diaphorase or reductase (congenital)
D74.0 NADH-methemoglobin reductase (congenital)
D74.0 niacin (amide) (-tryptophan)
E52 number of teeth see Anodontia
nutrition, nutritional
E63.9 see also Nutrition deficient sequelae see Sequelae, nutritional deficiency
of interleukin 1 receptor antagonist [DIRA]
M04.8 ornithine transcarbamylase
E72.4 oxygen see Anoxia
parathyroid (gland)
E20.9 phenylalanine hydroxylase
E70.1 phosphoenolpyruvate carboxykinase
E74.4 phosphorylase kinase, liver
E74.09 pituitary hormone (isolated)
E23.0 plasma thromboplastin
plasminogen (type 1) (type 2)
E88.02 constitutional see Disease, von Willebrand
proaccelerin (congenital) (hereditary)
D68.2 proconvertin factor (congenital) (hereditary)
D68.2 protein
E46 see also Malnutrition prothrombin (congenital) (heredItary)
D68.2 PTA (plasma thromboplastin antecedent)
D68.1 PTC (plasma thromboplastin component)
D67 purine nucleoside phosphorylase (PNP)
D81.5 pyracin (alpha) (beta)
E53.1 pyridoxine (derivatives)
E53.1 pyruvate
riboflavin (vitamin B2)
E53.0 SCAD (short chain acyl CoA dehydrogenase deficiency)
E71.312 secretion
salivary gland (any)
K11.7 serum antitrypsin, familial
E88.01 short stature homeobox gene (SHOX)
with
with urethral hypermobility
N36.43 stable factor (congenital) (hereditary)
D68.2 Stuart-Prower (factor X)
D68.2 succinic semialdehyde dehydrogenase
E72.81 thiamin, thiaminic (chloride)
E51.9 thyroid (gland) see Hypothyroidism
transcobalamine II (anemia)
D51.2 viosterol see Deficiency, calciferol
vitamin (multiple) NOS
E56.9 with
Bitot's spot (corneal)
E50.1 follicular keratosis
E50.8 scar of cornea, xerophthalmic
E50.6 xerosis
with
with circulatory system manifestations
E51.11 with
rickets see Rickets
PP (pellagra-preventing)
E52 beriberi see Beriberi
VLCAD (very long chain acyl CoA dehydrogenase deficiency)
E71.310 von Willebrand factor
partial quantitative
D68.01 see also Disease, von Willebrand total quantitative
D68.03 see also Disease, von Willebrand