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  • metabolic defect of carbohydrate (galactosemia)
    ź¼öÈ­¹°´ë»ç°áÇÔ(°¥¶ôÅä¿À½ºÇ÷?
  • metabolic defect of minerals (asiderosis)
    ¹«±âÁú´ë»ç°áÇÔ(ö°¨¼ÒÁõ)
  • metabolic defect of nucleic acid (purinemia)
    ÇÙ»ê´ë»ç°áÇÔ(Ç»¸°Ç÷Áõ)
  • metabolic defect of pigment (methemoglobinemia)
    »ö¼Ò´ë»ç°áÇÔ(¸ÞÆ®Çì¸ð±×·ÎºóÇ÷?
  • metabolic defect of steroid (adrenogenital syndrome)
    ½ºÅ×·ÎÀ̵å´ë»ç°áÇÔ(ºÎ½Å»ý½Ä±â?
  • migration defect
    ÀÌÁÖ°áÇÔ
  • moral, defect
  • morphologic defect
    ÇüŰáÇÔ
  • multiple morphologic defect
    º¹ÇÕÇüŰáÇÔ
  • muscular tonic defect (amyotonia)
    ±ÙÀ°±äÀå°áÇÌ(±ÙÀ°¹«·ÂÁõ)
  • neural defect (imbecility)
    ½Å°æ°áÇÌ(Ä¡¿ì)
  • neural tube defect
    ½Å°æ°ü °á¼Õ(¡­Î· ÌÀáß)
  • ostium primum atrial septal defect
    ÀÏÂ÷°øÇü ½É¹æÁ߰ݰá¼Õ
  • ostium primum defect
  • ostium secondum defect
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 10
LD labor and delivery; laboratory data; labyrinthine defect; lactate dehydrogenase; laser Doppler; lear...
LPD low-protein diet; luteal phase defect
LR labeled release; laboratory references; laboratory report; labor room; lactated Ringer [solution]; l...
MDBDF March of Dimes Birth Defect Foundation
NFLD nerve fiber layer defect
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CHRPE Congenital hypertrophy of the retinal pigment epithelium
CHT Congenital hypothyroidism
CLE Congenital lobar emphysema
CMN Congenital melanocytic nevi
CMN Congenital mesoblastic nephroma
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congenital virilizing adrenal hyperplasia A series of inherited inborn errors of metabolism with hyperplasia of the adrenal cortex and overproduction of virilizing hormones. Most common forms are due to partial or complete 21-hydroxylase deficiency, leading to increased ACTH production by the pituitary, stimulating adrenal growth and function. Severe form is characterised by salt-losing state.
(05 Mar 2000)
cystic adenomatoid malformation of lung, congenital A developmental anomaly that usually becomes apparent in the neonatal period with progressive respiratory distress. This malformation is a focal pulmonary dysplasia characterised by a multicystic mass of terminal bronchiolar structures. Ccam is classified into 3 separate types (I, II, III) depending on cyst size.
(12 Dec 1998)
heart defects, congenital Imperfections or malformations of the heart, existing at birth.
(12 Dec 1998)
hip dislocation, congenital Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males.
(12 Dec 1998)
hyperostosis, cortical, congenital A disease of young infants characterised by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation.
(12 Dec 1998)
nonbullous congenital ichthyosiform erythroderma Erythroderma or a collodion membrane at birth, usually without improvement during childhood, characterised by proliferation of epidermal keratinocytes with lipid accumulation; autosomal recessive inheritance.
(05 Mar 2000)
syphilis, congenital Syphilis acquired in utero and manifested by any of several characteristic tooth (hutchinson's teeth) or bone malformations and by active mucocutaneous syphilis at birth or shortly thereafter. Ocular and neurologic changes may also occur.
(12 Dec 1998)
disease, congenital heart A birth defect of the heart or great blood vessels (like the aorta).
(12 Dec 1998)
double congenital athetosis A type of cerebral palsy manifested predominantly as bilateral involuntary movements, beginning at about the age of 3 years, and preceded by generalised hypotonia and delayed motor development. Due to various causes, including kernicterus and birth hypoxia.
Synonym: congenital choreoathetosis, double congenital athetosis, Vogt syndrome.
(05 Mar 2000)
ichthyosiform erythroderma, congenital Designation for several severe forms of ichthyosis, present at birth, that are characterised by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalised scaling. The forms include bullous (hyperkeratosis, epidermolytic), non-bullous (ichthyosis, lamellar), wet type, and dry type.
(12 Dec 1998)
toxoplasmosis, congenital Congenital infection with toxoplasma gondii characterised by lesions of the central nervous system.
(12 Dec 1998)
foot deformities, congenital Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
(12 Dec 1998)
limb deformities, congenital Congenital structural deformities of the upper and lower extremities collectively or unspecified.
(12 Dec 1998)
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