| AHC | Albright's Hereditary Osteodystrophy |
|---|---|
| AHO | Albright's Hereditary Osteodystrophy |
| HCP | Hereditary Copro-Porphyria; À¯Àü¼º CoproPorphyria |
| HEMPAS Test | Hereditary Erythrocytic Multinuclearity with Positive Acidified Serum Test |
| HMSN | Hereditary Motor-Sensory Neuropathy |
| AHO | Albright hereditary osteodystrophy |
|---|---|
| CHED | Congenital Hereditary Endothelial Dystrophy |
| HANE | Hereditary Angio Neurotic Edema |
| HAE | Hereditary Angio-Edema |
| HCSMA | Hereditary Canine Spinal Muscular Atrophy |
| acquired hypogammaglobulinaemia | Heterogeneous group of immunodeficiency syndromes characterised by hypogammaglobulinaemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections. (12 Dec 1998) |
|---|---|
| primary hypogammaglobulinaemia | Hypogammaglobulinaemia due to a primary immunodeficiency of immunoglobulin-forming cells (B-lymphocytes). (05 Mar 2000) |
| X-linked hypogammaglobulinaemia | A congenital, X-linked recessive, primary immunodeficiency characterised by decreased numbers (or absence) of circulating B-lymphocytes with corresponding decrease in immunoglobulins of the five classes; associated with marked susceptibility to infection by pyogenic bacteria (notably, pneumococci and Haemophilus influenzae) beginning after loss of maternal antibodies. X-linked hypogammaglobulinaemia with growth hormone deficiency, hypogammaglobulinaemia combined with a reduced number of B-cells; characterised by short stature, delayed puberty, and recurrent infections. (05 Mar 2000) |
| secondary hypogammaglobulinaemia | Immunodeficiency in which there is no evident defect in the lymphoid tissues, but rather hypercatabolism or loss of immunoglobulins such as occurs in familial idiopathic hypercatabolic hypoproteinaemia or in defects associated with the nephrotic syndrome. Synonym: secondary agammaglobulinaemia, secondary antibody deficiency, secondary hypogammaglobulinaemia. (05 Mar 2000) |
| hypogammaglobulinaemia | <biochemistry> Syndromes in humans and other vertebrates in which the immunoglobulin level is depressed below the normal range. Congenital, chronic and transient types are known. Origin: Gr. Haima = blood (11 Jan 1998) |
| transient hypogammaglobulinaemia of infancy | A type of primary immunodeficiency that occurs in infants of both sexes, usually before the sixth month of life, probably resulting from immaturity of lymphoid tissue. Synonym: transient agammaglobulinaemia. (05 Mar 2000) |
| Albright's hereditary osteodystrophy | An inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects, notably the small fourth metacarpals, but intelligence is normal. There are dominant, recessive and X-linked forms. See: pseudohypoparathyroidism. Synonym: Albright's syndrome. (05 Mar 2000) |
| angioedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
| angioneurotic oedema, hereditary | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| canine hereditary blindness | An autosomal dominant condition seen in dogs of the collie and several other breeds. (05 Mar 2000) |
| colourectal neoplasms, hereditary nonpolyposis | A syndrome characterised by autosomal dominant inheritance, a low mean age (41 years) for occurrence of colon cancer, and a marked increase in the proportion of tumours in the proximal colon. (12 Dec 1998) |
| corneal dystrophies, hereditary | Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. (12 Dec 1998) |
| hereditary | <genetics> Transferred via genes from parent to child. (16 Dec 1997) |
| hereditary amyloidosis | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
| hereditary angioedema | A genetic form of angioedema. (angioedema is also referred to as quinke's disease.) persons with it are born lacking an inhibitor protein (called c1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of c1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema. (12 Dec 1998) |
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