Defect, defective

  • Defect, defective - Q89.9 Congenital malformation, unspecified
    • 11-hydroxylase - E25.0 Congenital adrenogenital disorders associated with enzyme deficiency
    • 21-hydroxylase - E25.0 Congenital adrenogenital disorders associated with enzyme deficiency
    • 3-beta-hydroxysteroid dehydrogenase - E25.0 Congenital adrenogenital disorders associated with enzyme deficiency
    • abdominal wall, congenital - Q79.59 Other congenital malformations of abdominal wall
    • antibody immunodeficiency - D80.9 Immunodeficiency with predominantly antibody defects, unspecified
    • aorticopulmonary septum - Q21.4 Aortopulmonary septal defect
    • atrial septal (ostium secundum type) - Q21.1 Atrial septal defect
      • following acute myocardial infarction (current complication) - I23.1 Atrial septal defect as current complication following acute myocardial infarction
      • ostium primum type - Q21.2 Atrioventricular septal defect
    • atrioventricular
      • canal - Q21.2 Atrioventricular septal defect
      • septum - Q21.2 Atrioventricular septal defect
    • auricular septal - Q21.1 Atrial septal defect
    • bilirubin excretion NEC - E80.6 Other disorders of bilirubin metabolism
    • biosynthesis, androgen (testicular) - E29.1 Testicular hypofunction
    • bulbar septum - Q21.0 Ventricular septal defect
    • catalase - E80.3 Defects of catalase and peroxidase
    • cell membrane receptor complex (CR3) - D71 Functional disorders of polymorphonuclear neutrophils
    • circulation - I99.9 Unspecified disorder of circulatory system
      • congenital - Q28.9 Congenital malformation of circulatory system, unspecified
      • newborn - Q28.9 Congenital malformation of circulatory system, unspecified
    • coagulation (factor) - See Also: Deficiency, factor; - D68.9 Coagulation defect, unspecified
      • acquired - D68.4 Acquired coagulation factor deficiency
      • antepartum with hemorrhage - See: Hemorrhage, antepartum, with coagulation defect;
      • due to
        • liver disease - D68.4 Acquired coagulation factor deficiency
        • vitamin K deficiency - D68.4 Acquired coagulation factor deficiency
      • hereditary NEC - D68.2 Hereditary deficiency of other clotting factors
      • intrapartum - O67.0 Intrapartum hemorrhage with coagulation defect
      • newborn, transient - P61.6 Other transient neonatal disorders of coagulation
      • postpartum - O99.13 Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating the puerperium
        • with hemorrhage - O72.3 Postpartum coagulation defects
      • specified type NEC - D68.8 Other specified coagulation defects
      • with
        • ectopic pregnancy - O08.1 Delayed or excessive hemorrhage following ectopic and molar pregnancy
        • molar pregnancy - O08.1 Delayed or excessive hemorrhage following ectopic and molar pregnancy
    • complement system - D84.1 Defects in the complement system
    • conduction (heart) - I45.9 Conduction disorder, unspecified
      • bone - See: Deafness, conductive;
    • congenital, organ or site not listed - See: Anomaly, by site;
    • coronary sinus - Q21.1 Atrial septal defect
    • cushion, endocardial - Q21.2 Atrioventricular septal defect
    • degradation, glycoprotein - E77.1 Defects in glycoprotein degradation
    • dental bridge, crown, fillings - See: Defect, dental restoration;
    • dental restoration - K08.50 Unsatisfactory restoration of tooth, unspecified
      • specified NEC - K08.59 Other unsatisfactory restoration of tooth
    • dentin (hereditary) - K00.5 Hereditary disturbances in tooth structure, not elsewhere classified
    • Descemet's membrane, congenital - Q13.89 Other congenital malformations of anterior segment of eye
    • developmental - See Also: Anomaly;
      • cauda equina - Q06.3 Other congenital cauda equina malformations
    • diaphragm
      • congenital - Q79.1 Other congenital malformations of diaphragm
        • gross (with hernia) - Q79.0 Congenital diaphragmatic hernia
        • with hernia - Q79.0 Congenital diaphragmatic hernia
      • with elevation, eventration or hernia - See: Hernia, diaphragm;
    • ectodermal, congenital - Q82.9 Congenital malformation of skin, unspecified
    • Eisenmenger's - Q21.8 Other congenital malformations of cardiac septa
    • enzyme
      • catalase - E80.3 Defects of catalase and peroxidase
      • peroxidase - E80.3 Defects of catalase and peroxidase
    • esophagus, congenital - Q39.9 Congenital malformation of esophagus, unspecified
    • extensor retinaculum - M62.89 Other specified disorders of muscle
    • fibrin polymerization - D68.2 Hereditary deficiency of other clotting factors
    • filling
      • bladder - R93.41 Abnormal radiologic findings on diagnostic imaging of renal pelvis, ureter, or bladder
      • kidney - R93.42 Abnormal radiologic findings on diagnostic imaging of kidney
      • renal pelvis - R93.41 Abnormal radiologic findings on diagnostic imaging of renal pelvis, ureter, or bladder
      • stomach - R93.3 Abnormal findings on diagnostic imaging of other parts of digestive tract
      • ureter - R93.41 Abnormal radiologic findings on diagnostic imaging of renal pelvis, ureter, or bladder
      • urinary organs, specified NEC - R93.49 Abnormal radiologic findings on diagnostic imaging of other urinary organs
    • GABA (gamma aminobutyric acid) metabolic - E72.81 Disorders of gamma aminobutyric acid metabolism
    • Gerbode - Q21.0 Ventricular septal defect
    • glycoprotein degradation - E77.1 Defects in glycoprotein degradation
    • Hageman (factor) - D68.2 Hereditary deficiency of other clotting factors
    • hearing - See: Deafness;
    • high grade - F70 Mild intellectual disabilities
    • interatrial septal - Q21.1 Atrial septal defect
    • interauricular septal - Q21.1 Atrial septal defect
    • interventricular septal - Q21.0 Ventricular septal defect
      • in tetralogy of Fallot - Q21.3 Tetralogy of Fallot
      • with dextroposition of aorta, pulmonary stenosis and hypertrophy of right ventricle - Q21.3 Tetralogy of Fallot
    • learning (specific) - See: Disorder, learning;
    • lymphocyte function antigen-1 (LFA-1) - D84.0 Lymphocyte function antigen-1 [LFA-1] defect
    • lysosomal enzyme, post-translational modification - E77.0 Defects in post-translational modification of lysosomal enzymes
    • major osseous - M89.70 Major osseous defect, unspecified site
      • ankle - M89.77 Major osseous defect, ankle and foot
      • carpus - M89.74 Major osseous defect, hand
      • clavicle - M89.71 Major osseous defect, shoulder region
      • femur - M89.75 Major osseous defect, pelvic region and thigh
      • fibula - M89.76 Major osseous defect, lower leg
      • fingers - M89.74 Major osseous defect, hand
      • foot - M89.77 Major osseous defect, ankle and foot
      • forearm - M89.73 Major osseous defect, forearm
      • hand - M89.74 Major osseous defect, hand
      • humerus - M89.72 Major osseous defect, humerus
      • lower leg - M89.76 Major osseous defect, lower leg
      • metacarpus - M89.74 Major osseous defect, hand
      • metatarsus - M89.77 Major osseous defect, ankle and foot
      • multiple sites - M89.79 Major osseous defect, multiple sites
      • pelvic region - M89.75 Major osseous defect, pelvic region and thigh
      • pelvis - M89.75 Major osseous defect, pelvic region and thigh
      • radius - M89.73 Major osseous defect, forearm
      • scapula - M89.71 Major osseous defect, shoulder region
      • shoulder region - M89.71 Major osseous defect, shoulder region
      • specified NEC - M89.78 Major osseous defect, other site
      • tarsus - M89.77 Major osseous defect, ankle and foot
      • thigh - M89.75 Major osseous defect, pelvic region and thigh
      • tibia - M89.76 Major osseous defect, lower leg
      • toes - M89.77 Major osseous defect, ankle and foot
      • ulna - M89.73 Major osseous defect, forearm
    • mental - See: Disability, intellectual;
    • modification, lysosomal enzymes, post-translational - E77.0 Defects in post-translational modification of lysosomal enzymes
    • obstructive, congenital
      • renal pelvis - Q62.39 Other obstructive defects of renal pelvis and ureter
      • ureter - Q62.39 Other obstructive defects of renal pelvis and ureter
        • atresia - See: Atresia, ureter;
        • cecoureterocele - Q62.32 Cecoureterocele
        • megaureter - Q62.2 Congenital megaureter
        • orthotopic ureterocele - Q62.31 Congenital ureterocele, orthotopic
    • osseous, major - M89.70 Major osseous defect, unspecified site
      • ankle - M89.77 Major osseous defect, ankle and foot
      • carpus - M89.74 Major osseous defect, hand
      • clavicle - M89.71 Major osseous defect, shoulder region
      • femur - M89.75 Major osseous defect, pelvic region and thigh
      • fibula - M89.76 Major osseous defect, lower leg
      • fingers - M89.74 Major osseous defect, hand
      • foot - M89.77 Major osseous defect, ankle and foot
      • forearm - M89.73 Major osseous defect, forearm
      • hand - M89.74 Major osseous defect, hand
      • humerus - M89.72 Major osseous defect, humerus
      • lower leg - M89.76 Major osseous defect, lower leg
      • metacarpus - M89.74 Major osseous defect, hand
      • metatarsus - M89.77 Major osseous defect, ankle and foot
      • multiple sites - M89.9 Disorder of bone, unspecified
      • pelvic region - M89.75 Major osseous defect, pelvic region and thigh
      • pelvis - M89.75 Major osseous defect, pelvic region and thigh
      • radius - M89.73 Major osseous defect, forearm
      • scapula - M89.71 Major osseous defect, shoulder region
      • shoulder region - M89.71 Major osseous defect, shoulder region
      • specified NEC - M89.78 Major osseous defect, other site
      • tarsus - M89.77 Major osseous defect, ankle and foot
      • thigh - M89.75 Major osseous defect, pelvic region and thigh
      • tibia - M89.76 Major osseous defect, lower leg
      • toes - M89.77 Major osseous defect, ankle and foot
      • ulna - M89.73 Major osseous defect, forearm
    • osteochondral NEC - See Also: Deformity; - M95.8 Other specified acquired deformities of musculoskeletal system
    • ostium
      • primum - Q21.2 Atrioventricular septal defect
      • secundum - Q21.1 Atrial septal defect
    • peroxidase - E80.3 Defects of catalase and peroxidase
    • placental blood supply - See: Insufficiency, placental;
    • platelets, qualitative - D69.1 Qualitative platelet defects
      • constitutional - D68.0 Von Willebrand's disease
    • postural NEC, spine - See: Dorsopathy, deforming;
    • reduction
      • limb - Q73.8 Other reduction defects of unspecified limb(s)
        • lower - Q72.9 Unspecified reduction defect of lower limb
          • absence - See: Agenesis, leg;
            • foot - See: Agenesis, foot;
          • longitudinal
            • femur - Q72.4 Longitudinal reduction defect of femur
            • fibula - Q72.6 Longitudinal reduction defect of fibula
            • tibia - Q72.5 Longitudinal reduction defect of tibia
          • specified type NEC - Q72.89 Other reduction defects of lower limb
          • split foot - Q72.7 Split foot
        • specified type NEC - Q73.8 Other reduction defects of unspecified limb(s)
        • upper - Q71.9 Unspecified reduction defect of upper limb
          • absence - See: Agenesis, arm;
            • forearm - See: Agenesis, forearm;
            • hand - See: Agenesis, hand;
          • lobster-claw hand - Q71.6 Lobster-claw hand
          • longitudinal
            • radius - Q71.4 Longitudinal reduction defect of radius
            • ulna - Q71.5 Longitudinal reduction defect of ulna
          • specified type NEC - Q71.89 Other reduction defects of upper limb
    • renal pelvis - Q63.8 Other specified congenital malformations of kidney
      • obstructive - Q62.39 Other obstructive defects of renal pelvis and ureter
    • respiratory system, congenital - Q34.9 Congenital malformation of respiratory system, unspecified
    • restoration, dental - K08.50 Unsatisfactory restoration of tooth, unspecified
      • specified NEC - K08.59 Other unsatisfactory restoration of tooth
    • retinal nerve bundle fibers - H35.89 Other specified retinal disorders
    • septal (heart) NOS - Q21.9 Congenital malformation of cardiac septum, unspecified
      • acquired (atrial) (auricular) (ventricular) (old) - I51.0 Cardiac septal defect, acquired
      • atrial - Q21.1 Atrial septal defect
        • concurrent with acute myocardial infarction - See: Infarct, myocardium;
        • following acute myocardial infarction (current complication) - I23.1 Atrial septal defect as current complication following acute myocardial infarction
      • ventricular - See Also: Defect, ventricular septal; - Q21.0 Ventricular septal defect
    • sinus venosus - Q21.1 Atrial septal defect
    • speech - R47.9 Unspecified speech disturbances
      • developmental - F80.9 Developmental disorder of speech and language, unspecified
      • specified NEC - R47.89 Other speech disturbances
    • Taussig-Bing (aortic transposition and overriding pulmonary artery) - Q20.1 Double outlet right ventricle
    • teeth, wedge - K03.1 Abrasion of teeth
    • vascular (local) - I99.9 Unspecified disorder of circulatory system
      • congenital - Q27.9 Congenital malformation of peripheral vascular system, unspecified
    • ventricular septal - Q21.0 Ventricular septal defect
      • concurrent with acute myocardial infarction - See: Infarct, myocardium;
      • following acute myocardial infarction (current complication) - I23.2 Ventricular septal defect as current complication following acute myocardial infarction
      • in tetralogy of Fallot - Q21.3 Tetralogy of Fallot
    • vision NEC - H54.7 Unspecified visual loss
    • visual field - H53.40 Unspecified visual field defects
      • bilateral
        • heteronymous - H53.47 Heteronymous bilateral field defects
        • homonymous - H53.46 Homonymous bilateral field defects
      • generalized contraction - H53.48 Generalized contraction of visual field
      • localized
        • arcuate - H53.43 Sector or arcuate defects
        • scotoma (central area) - H53.41 Scotoma involving central area
          • blind spot area - H53.42 Scotoma of blind spot area
        • sector - H53.43 Sector or arcuate defects
        • specified type NEC - H53.45 Other localized visual field defect
    • voice - R49.9 Unspecified voice and resonance disorder
      • specified NEC - R49.8 Other voice and resonance disorders
    • wedge, tooth, teeth (abrasion) - K03.1 Abrasion of teeth

Footnotes

Steroid 21-Hydroxylase: An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).

Ankle: The region of the lower limb between the FOOT and the LEG.

Bone and Bones: A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principal cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.

Catalase: An oxidoreductase that catalyzes the conversion of HYDROGEN PEROXIDE to water and oxygen. It is present in many animal cells. A deficiency of this enzyme results in ACATALASIA.

Cauda Equina: The lower part of the SPINAL CORD consisting of the lumbar, sacral, and coccygeal nerve roots.

Clavicle: A bone on the ventral side of the shoulder girdle, which in humans is commonly called the collar bone.

Diaphragm: The musculofibrous partition that separates the THORACIC CAVITY from the ABDOMINAL CAVITY. Contraction of the diaphragm increases the volume of the thoracic cavity aiding INHALATION.

Femur: The longest and largest bone of the skeleton, it is situated between the hip and the knee.

Fibula: The bone of the lower leg lateral to and smaller than the tibia. In proportion to its length, it is the most slender of the long bones.

Fingers: Four or five slender jointed digits in humans and primates, attached to each HAND.

Foot: The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones.

Forearm: Part of the upper extremity in humans and primates extending from the ELBOW to the WRIST.

Hand: The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.

Hearing: The ability or act of sensing and transducing ACOUSTIC STIMULATION to the CENTRAL NERVOUS SYSTEM. It is also called audition.

Humerus: Bone in humans and primates extending from the SHOULDER JOINT to the ELBOW JOINT.

Kidney: Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.

Extremities: The farthest or outermost projections of the body, such as the HAND and FOOT.

Liver Diseases: Pathological processes of the LIVER.

Metacarpus: The region of the HAND between the WRIST and the FINGERS.

Metatarsus: The part of the foot between the tarsa and the TOES.

Infant, Newborn: An infant during the first 28 days after birth.

Pelvis: The space or compartment surrounded by the pelvic girdle (bony pelvis). It is subdivided into the greater pelvis and LESSER PELVIS. The pelvic girdle is formed by the PELVIC BONES and SACRUM.

Peroxidase: A hemeprotein from leukocytes. Deficiency of this enzyme leads to a hereditary disorder coupled with disseminated moniliasis. It catalyzes the conversion of a donor and peroxide to an oxidized donor and water. EC 1.11.1.7.

Postpartum Period: In females, the period that is shortly after giving birth (PARTURITION).

Radius: The outer shorter of the two bones of the FOREARM, lying parallel to the ULNA and partially revolving around it.

Scapula: Also called the shoulder blade, it is a flat triangular bone, a pair of which form the back part of the shoulder girdle.

Speech: Communication through a system of conventional vocal symbols.

Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the ESOPHAGUS and the beginning of the DUODENUM.

Thigh: The portion of the leg in humans and other animals found between the HIP and KNEE.

Tibia: The second longest bone of the skeleton. It is located on the medial side of the lower leg, articulating with the FIBULA laterally, the TALUS distally, and the FEMUR proximally.

Toes: Any one of five terminal digits of the vertebrate FOOT.

Ulna: The inner and longer bone of the FOREARM.

Ureter: One of a pair of thick-walled tubes that transports urine from the KIDNEY PELVIS to the URINARY BLADDER.

Visual Fields: The total area or space visible in a person's peripheral vision with the eye looking straightforward.

Vitamin K Deficiency: A nutritional condition produced by a deficiency of VITAMIN K in the diet, characterized by an increased tendency to hemorrhage (HEMORRHAGIC DISORDERS). Such bleeding episodes may be particularly severe in newborn infants. (From Cecil Textbook of Medicine, 19th ed, p1182)

Voice: The sounds produced by humans by the passage of air through the LARYNX and over the VOCAL CORDS, and then modified by the resonance organs, the NASOPHARYNX, and the MOUTH.

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