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Nodes
Browse canonical concepts by label, domain, node type, prefix and encoded class.
Current membership scope: Domain and all descendants
| Concept | Node type | Base domain | Matched membership | Identifier |
|---|---|---|---|---|
| Citrullinemia A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neon… | Congenital Disorder | Pathology | Nervous System [curated_secondary] | AMW:DIS:100127 |
| Classical Lissencephalies and Subcortical Band Heterotopias Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive i… | Congenital Disorder | Pathology | Nervous System [curated_secondary] | AMW:DIS:100393 |
| Cleft Palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. | Congenital Disorder | Pathology | Musculoskeletal System [curated_secondary] | AMW:DIS:050174 |
| Cleidocranial Dysplasia Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES);… | Pathologic Condition | Pathology | Musculoskeletal System [curated_secondary] | AMW:DIS:050042 |
| Cloacal Exstrophy A rare congenital malformation that affects the development of the urinary, digestive, and REPRODUCTIVE SYSTEMS due to CLOACA malformations. In this … | Congenital Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060032 |
| Clubfoot A deformed foot in which the foot is plantarflexed, inverted, and adducted. | Congenital Disorder | Pathology | Musculoskeletal System [curated_secondary] | AMW:DIS:050154 |
| Coagulation Protein Disorders Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins. | Disorder | Pathology | Hematopoietic System [curated_secondary] | AMW:DIS:150062 |
| Cobblestone Lissencephaly The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of h… | Congenital Disorder | Pathology | Nervous System [curated_secondary] | AMW:DIS:100395 |
| Cockayne Syndrome A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is ca… | Syndrome | Pathology | Musculoskeletal System [curated_secondary] | AMW:DIS:050009 |
| Coffin-Lowry Syndrome A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the … | Syndrome | Pathology | Nervous System [curated_secondary] | AMW:DIS:100490 |
| Cogan Syndrome A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-… | Syndrome | Pathology | Nervous System [curated_secondary] | AMW:DIS:100003 |
| Cogwheel Rigidity Created as a target node for a staged ClinicalGraph edge. Review and enrich this node later if needed. | Clinical Sign | Clinical Medicine | Respiratory System [role_derived] | AMW:SIGN:145015 |
| Cold Urticaria Various skin flares developing after exposure to cold temperature. While most are characterized by a limited episodic cutaneous condition characteriz… | Immune Disorder | Pathology | Immune System [curated_secondary], Integumentary System [curated_secondary] | AMW:DIS:170138 |
| Colitis Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABD… | Inflammatory Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060071 |
| Colitis, Collagenous A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIO… | Inflammatory Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060074 |
| Colitis, Ischemic Inflammation of the COLON due to colonic ISCHEMIA resulting from alterations in systemic circulation or local vasculature. | Inflammatory Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060072 |
| Colitis, Lymphocytic A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIO… | Inflammatory Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060075 |
| Colitis, Microscopic A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was… | Inflammatory Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060073 |
| Colitis, Ulcerative Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, a… | Inflammatory Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060076 |
| Collagen Diseases Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic… | Disorder | Pathology | Immune System [curated_secondary], Musculoskeletal System [curated_secondary] | AMW:DIS:170004 |
| Collagenous Sprue A malabsorption syndrome characterized by collagenous mucosal lesions of the SMALL INTESTINE, atrophy of MICROVILLI, severe malabsorption, diarrhea, … | Metabolic Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060144 |
| Colles' Fracture Fracture of the lower end of the radius in which the lower fragment is displaced posteriorly. | Traumatic Disorder | Pathology | Musculoskeletal System [curated_secondary] | AMW:DIS:050228 |
| Coloboma Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. | Congenital Disorder | Pathology | Visual System [curated_secondary] | AMW:DIS:110033 |
| Colonic Diseases Pathological processes in the COLON region of the large intestine (INTESTINE, LARGE). | Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060108 |
| Colonic Diseases, Functional Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized IRRITABLE BOWEL SYNDROME … | Functional Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060110 |
| Colonic Polyps Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, … | Pathologic Condition | Pathology | Digestive System [curated_secondary] | AMW:DIS:230036 |
| Colonic Pseudo-Obstruction Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is… | Disorder | Pathology | Digestive System [curated_secondary] | AMW:DIS:060111 |
| Color Vision Defects Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity … | Pathologic Condition | Pathology | Nervous System [curated_secondary] | AMW:DIS:100569 |
| Coma A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs wh… | Pathologic Condition | Pathology | Nervous System [curated_secondary] | AMW:DIS:100480 |
| Coma, Post-Head Injury Prolonged unconsciousness from which the individual cannot be aroused, associated with traumatic injuries to the BRAIN. This may be defined as uncons… | Traumatic Disorder | Pathology | Nervous System [curated_secondary] | AMW:DIS:100481 |