Terminology Service for NFDI4Health
All individuals in MESHD
| Label | Id | Description |
|---|---|---|
| Campomelic Dysplasia | D055036 | [A rarer variant of campomelic dysplasia. The characteristics match campomelic dysplasia except that long bone curvature is not present (acampomelia)., A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.] |
| Campylobacter Infections | D002169 | [Infections with bacteria of the genus CAMPYLOBACTER.] |
| Camurati-Engelmann Syndrome | D003966 | [An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.] |
| Canaliculitis | D000069282 | [Inflammation and infection of the lacrimal canaliculus area in the LACRIMAL APPARATUS.] |
| Canavan Disease | D017825 | [A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)] |
| Cancer Pain | D000072716 | [Pain that may be caused by or related to cellular, tissue, and systemic changes that occur during NEOPLASM growth, tissue invasion, and METASTASIS.] |
| Candidemia | D058387 | [A form of invasive candidiasis where species of CANDIDA are present in the blood.] |
| Candidiasis | D002177 | [Infection with a fungus of the genus CANDIDA. It is usually a superficial infection of the moist areas of the body and is generally caused by CANDIDA ALBICANS. (Dorland, 27th ed)] |
| Candidiasis, Chronic Mucocutaneous | D002178 | [A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy.] |
| Candidiasis, Cutaneous | D002179 | [Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)] |
| Candidiasis, Invasive | D058365 | [An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement.] |
| Candidiasis, Oral | D002180 | [Infection of the mucous membranes of the mouth by a fungus of the genus CANDIDA. (Dorland, 27th ed)] |
| Candidiasis, Vulvovaginal | D002181 | [Infection of the VULVA and VAGINA with a fungus of the genus CANDIDA.] |
| Capillary Leak Syndrome | D019559 | [A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.] |
| Caplan Syndrome | D002205 | [A condition characterized by the presence of RHEUMATOID ARTHRITIS associated with a specific form of pneumoconiosis, often in coal miners and asbestos workers.] |
| Capsule Opacification | D058442 | [Clouding or loss of transparency of the posterior lens capsule, usually following CATARACT extraction.] |
| Carbamoyl-Phosphate Synthase I Deficiency Disease | D020165 | [A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)] |
| Carbohydrate Metabolism, Inborn Errors | D002239 | [Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.] |
| Carbon Monoxide Poisoning | D002249 | [Toxic asphyxiation due to the displacement of oxygen from oxyhemoglobin by carbon monoxide.] |
| Carbon Tetrachloride Poisoning | D002252 | [Poisoning that results from ingestion, injection, inhalation, or skin absorption of CARBON TETRACHLORIDE.] |