clinical phenotype

DEFINITION:

The clinical expression of a single gene or gene pair.

association

DEFINITION:

1. A state in which two attributes occur together either more or less often than expected by chance.

2. In neurology, a term applied to those regions of the brain that link the primary motor and sensory cortices; see association areas.

3. In genetics, the occurrence together of two or more phenotypic characteristics more often than would be expected by chance.

4. In psychiatry, a connection between ideas or feelings, especially between conscious thoughts and elements of the unconscious, or the formation of such a connection.

renal tubular acidosis

DEFINITION:

A variety of metabolic acidosis resulting from impairment of renal function; it is usually accompanied by hyperchloremic acidosis, high urinary pH, bicarbonaturia, and lowered excretion of ammonium and titratable acids. Type 1 and Type 2 are distinguished according to whether the primary dysfunction is in the distal or the proximal tubules. See distal renal tubular acidosis and proximal renal tubular acidosis . Abbreviated RTA .

cholestasis

DEFINITION:

Stoppage or suppression of the flow of bile, having intrahepatic or extrahepatic causes.

paediatric

DEFINITION:

Variant spelling of pediatric . Pertaining to pediatrics.

syndrome

DEFINITION:

A set of symptoms which occur together.

presented

DEFINITION:

Having appeared or shown, as having appeared first at the os uteri (said of a fetus), or having appeared for examination, treatment, etc. (said of a patient).

nephrogenic diabetes insipidus

DEFINITION:

A syndrome of polyuria and hyposthenuria caused by the failure of the renal tubules to reabsorb water in response to antidiuretic hormone, without disturbance in the renal filtration and solute excretion rates; the condition does not respond to exogenous vasopressin. It may be inherited as a rare X-linked trait or be acquired as a result of drug therapy or systemic disease.

cholestasis

DEFINITION:

Stoppage or suppression of the flow of bile, having intrahepatic or extrahepatic causes.

dysmorphic

DEFINITION:

1. Pertaining to dysmorphology.

2. Characterized by dysmorphism; malformed.

ichthyosis

DEFINITION:

Any in a group of cutaneous disorders characterized by increased or aberrant keratinization, resulting in noninflammatory scaling of the skin. Most ichthyoses are genetically determined, while some may be acquired and develop in association with various systemic diseases or be a prominent feature in certain genetic syndromes.

febrile

DEFINITION:

1. Pertaining to fever.

2. Characterized by fever. Called also feverish, pyrectic, pyretic, and pyrexial.

diarrhoea

DEFINITION:

Variant spelling of diarrhea .

blood films

DEFINITION:

See fixed blood film.

platelets

DEFINITION:

A disk-shaped structure, 2 to 4 µm in diameter, found in the blood of all mammals and chiefly known for their role in blood coagulation; platelets, which are formed in the megakaryocyte and released from its cytoplasm in clusters, lack a nucleus and DNA but contain active enzymes and mitochondria. Called also blood disk , blood platelet , and thrombocyte .

variability

DEFINITION:

The state of being variable.

association

DEFINITION:

1. A state in which two attributes occur together either more or less often than expected by chance.

2. In neurology, a term applied to those regions of the brain that link the primary motor and sensory cortices; see association areas.

3. In genetics, the occurrence together of two or more phenotypic characteristics more often than would be expected by chance.

4. In psychiatry, a connection between ideas or feelings, especially between conscious thoughts and elements of the unconscious, or the formation of such a connection.

Fanconi syndrome

DEFINITION:

1. A rare recessive disorder with a poor prognosis, characterized by pancytopenia, bone marrow hypoplasia, and patchy brown skin discoloration due to deposition of melanin, as well as multiple congenital anomalies of the musculoskeletal and genitourinary systems. Called also Fanconi's syndrome; Fanconi's anemia, pancytopenia, or panmyelopathy; congenital hypoplastic anemia; congenital pancytopenia; constitutional infantile panmyelopathy; and pancytopenia-dysmelia syndrome.

2. A general term for a group of diseases marked by dysfunction of the proximal renal tubules, with generalized hyperaminoaciduria, renal glycosuria, hyperphosphaturia, and bicarbonate and water loss; the most common cause is cystinosis, but it is also associated with other genetic diseases and occurs in idiopathic and acquired forms. When unassociated with cystinosis, the disorder is also called de Toni-Fanconi syndrome.

ichthyosis

DEFINITION:

Any in a group of cutaneous disorders characterized by increased or aberrant keratinization, resulting in noninflammatory scaling of the skin. Most ichthyoses are genetically determined, while some may be acquired and develop in association with various systemic diseases or be a prominent feature in certain genetic syndromes.

dysmorphism

DEFINITION:

1. An abnormality in morphological development, such as a congenital anomaly.

2. Allomorphism.

3. Ability to appear in different morphological forms.

jaundice

DEFINITION:

A syndrome characterized by hyperbilirubinemia and deposition of bile pigment in the skin, mucous membranes and sclera with resulting yellow appearance of the patient; called also icterus.

diarrhoea

DEFINITION:

Variant spelling of diarrhea .

syndrome

DEFINITION:

A set of symptoms which occur together.

spectrum

DEFINITION:

1. A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction.
2. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial spectrum) or the complete range of manifestations of a disease.
3. A series of colors formed when a beam of white light is dispersed (as by a prism) so that its parts are arranged in the order of their wavelengths.
4. A series of radiations arranged in regular order.
5. A continuous sequence or range.

permission

DEFINITION:

Formal consent; authorization.