| PKD | Pyruvate Kinase Deficiency |
|---|---|
| SCID | Severe Combined Immuno-Deficiency; 중증 복합 면역 결핍증 |
| WAGR syndrome | Wilms's Tumor Aniridia Genital Anomalies Me... |
| AAD | acute agitated delirium; alloxazine adenine dinucleotide; alpha-1-antitrypsin deficiency; American A... |
| AAMD | American Academy of Medical Directors; American Association of Mental Deficiency |
| congenital nevus | A melanocytic nevus that is visible at birth, is often larger than an acquired nevus, and more frequently involves deeper structures. (05 Mar 2000) |
|---|---|
| congenital nonregenerative anaemia | Congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients. Synonym: congenital nonregenerative anaemia, Diamond-Blackfan anaemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia. (05 Mar 2000) |
| congenital nystagmus | Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth, inherited nystagmus, usually X-linked, without associated neurologic lesions and nonprogressive; all three patterns of mendelian inheritance may occur: autosomal dominant, autosomal recessive,, the nystagmus associated with albinism, achromatopsia, and hypoplasia of the macula. (05 Mar 2000) |
| congenital pancytopenia | <haematology> A rare inherited type of aplastic anaemia which carries an increased risk to the patient of developing leukaemia. May be treated by bone marrow transplant. Origin: Gr. Haima = blood (13 Nov 1997) |
| congenital paramyotonia | Paramyotonia congenita, a nonprogressive myotonia induced by exposure of muscles to cold; there are episodes of intermittent flaccid paralysis, but no atrophy or hypertrophy of muscles; autosomal dominant inheritance. There is a variant autosomal dominant form in which cold is not a provoking factor. Synonym: Eulenburg's disease. (05 Mar 2000) |
| congenital pneumonia | Pneumonia in the newborn, infection being contracted prenatally. (05 Mar 2000) |
| congenital pulmonary arteriovenous fistula | Abnormal congenital communication between pulmonary arteries and veins usually found in the lung parenchyma. (05 Mar 2000) |
| congenital pyloric stenosis | <radiology> Not seen until 3 weeks, projectile vomiting, palpable olive in RUQ/epigastrium (12 Dec 1998) |
| congenital renal cysts | <radiology> Congenital solitary cyst, multilocular cyst, multicystic disease (renal dysplasia), polycystic disease, autosomal-recessive (childhood) form, autosomal-dominant (adult) form, medullary sponge kidney, medulary cystic disease see also: Potter syndrome (12 Dec 1998) |
| congenital renal osteodystrophy | <radiology> Tubular form of renal osteodystrophy, vitamin D-resistant rickets, Fanconi syndrome, renal tubular acidosis (12 Dec 1998) |
| congenital rubella syndrome | <syndrome> Foetal infection with rubella virus during the first trimester of pregnancy resulting in a series of congenital abnormalities including heart disease, deafness, and blindness. (05 Mar 2000) |
| congenital sebaceous hyperplasia | Misnomer for nevus sebaceus. (05 Mar 2000) |
| congenital severe combined immunodeficiency | Disease, one form of which is caused by the lack of a transcription factor required for expression of HLA class II genes. (18 Nov 1997) |
| congenital sinus tumour | <radiology> Midline depression or tract, lined with stratified squamous epithelium, most common sites: lumbosacral area, occiput, epidermoid or dermoid cyst anywhere along tract (12 Dec 1998) |
| congenital spastic paraplegia | A spastic paralysis of the lower extremities occurring in the infant. Synonym: infantile spastic paraplegia. (05 Mar 2000) |