CUI1 stringlengths 8 8 | RELA stringlengths 3 54 | CUI2 stringlengths 8 8 | Name1 stringlengths 1 2.86k ⌀ | Name2 stringlengths 1 2.86k ⌀ | Def1 stringlengths 1 8.95k ⌀ | Def2 stringlengths 1 8.95k ⌀ |
|---|---|---|---|---|---|---|
C0000768 | has_associated_morphology | C5700106 | Congenital Abnormality | Congenital cyst of fimbria of fallopian tube | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_member | C3160959 | Congenital Abnormality | Foetal disorders (SMQ) | Malformations of organs or body parts during development in utero. | SMQ Pregnancy and neonatal topics was developed to replace original SMQ Adverse pregnancy outcome/reproductive toxicity (incl neonatal disorders) which had discrepancies in term inclusion resulting in maintenance issues. It was also developed to be more compatible with regulatory goals related to pregnancy and neonatal... |
C0000768 | classifies | C0424605 | Congenital Abnormality | Developmental delay | Malformations of organs or body parts during development in utero. | Failure to meet, or late achievement of developmental milestones. |
C0000768 | has_answer | C0801658 | Congenital Abnormality | Diagnosis.primary:Imp:Pt:^Patient:Nom | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_answer | C3699700 | Congenital Abnormality | Comorbidities relevant to trauma care:Find:Pt:^Patient:Nom:NTDS | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_answer | C4019169 | Congenital Abnormality | Medical history relevant to physical therapy treatment:Type:Pt:^Patient:Nom | Malformations of organs or body parts during development in utero. | null |
C0000768 | classified_as | C0157063 | Congenital Abnormality | fetal abnormality affecting care of mother | Malformations of organs or body parts during development in utero. | null |
C0000768 | classified_as | C0158795 | Congenital Abnormality | Other and unspecified congenital anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | classified_as | C0332907 | Congenital Abnormality | Congenital absence | Malformations of organs or body parts during development in utero. | null |
C0000768 | classified_as | C0478095 | Congenital Abnormality | Other specified congenital malformations | Malformations of organs or body parts during development in utero. | null |
C0000768 | classified_as | C1744681 | Congenital Abnormality | Congenital (qualifier value) | Malformations of organs or body parts during development in utero. | Denoting something that is present at birth. |
C0000768 | classified_as | C5577908 | Congenital Abnormality | Minor congenital anomaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | classified_as | C5577909 | Congenital Abnormality | Major congenital malformation | Malformations of organs or body parts during development in utero. | null |
C0000768 | classified_as | C5577910 | Congenital Abnormality | Non-chromosomal congenital anomaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0002447 | Congenital Abnormality | Amelia | Malformations of organs or body parts during development in utero. | A congenital malformation characterized by the complete absence of all limbs. |
C0000768 | isa | C0002452 | Congenital Abnormality | Amelogenesis Imperfecta | Malformations of organs or body parts during development in utero. | A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION. |
C0000768 | isa | C0002636 | Congenital Abnormality | Amniotic Band Syndrome | Malformations of organs or body parts during development in utero. | A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations. |
C0000768 | isa | C0003076 | Congenital Abnormality | Aniridia | Malformations of organs or body parts during development in utero. | A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant. |
C0000768 | isa | C0003119 | Congenital Abnormality | Anophthalmos | Malformations of organs or body parts during development in utero. | Congenital absence of the eye or eyes. |
C0000768 | isa | C0003466 | Congenital Abnormality | Anus, Imperforate | Malformations of organs or body parts during development in utero. | A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME. |
C0000768 | isa | C0003803 | Congenital Abnormality | Arnold Chiari Malformation | Malformations of organs or body parts during development in utero. | A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but le... |
C0000768 | isa | C0005411 | Congenital Abnormality | Biliary Atresia | Malformations of organs or body parts during development in utero. | Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE. |
C0000768 | isa | C0008924 | Congenital Abnormality | Cleft upper lip | Malformations of organs or body parts during development in utero. | Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. |
C0000768 | isa | C0008925 | Congenital Abnormality | Cleft Palate | Malformations of organs or body parts during development in utero. | Congenital fissure of the soft and/or hard palate, due to faulty fusion. |
C0000768 | isa | C0009363 | Congenital Abnormality | Congenital ocular coloboma | Malformations of organs or body parts during development in utero. | Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. |
C0000768 | isa | C0009694 | Congenital Abnormality | Congenital cerebral meningocele | Malformations of organs or body parts during development in utero. | A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leakin... |
C0000768 | isa | C0009730 | Congenital Abnormality | Spinal meningocele | Malformations of organs or body parts during development in utero. | A congenital abnormality in which the meninges protrude through a defect in the spinal column. |
C0000768 | isa | C0010278 | Congenital Abnormality | Craniosynostosis | Malformations of organs or body parts during development in utero. | Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS. |
C0000768 | isa | C0011599 | Congenital Abnormality | Dermal Sinus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0011989 | Congenital Abnormality | Camurati-Engelmann Syndrome | Malformations of organs or body parts during development in utero. | 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. |
C0000768 | isa | C0011999 | Congenital Abnormality | Diastematomyelia | Malformations of organs or body parts during development in utero. | A rare malformation characterized by localized longitudinal division of the spinal cord into two "hemicords". Vertebro-costal anomalies are commonly associated. Classic overlying skin stigmata is a focal hypertrichosis/hairy patch. Split cord malformations may be associated with other dysraphic anomalies (eg: filum lip... |
C0000768 | isa | C0013575 | Congenital Abnormality | Ectodermal Dysplasia | Malformations of organs or body parts during development in utero. | A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and h... |
C0000768 | isa | C0013580 | Congenital Abnormality | Ectopia Cordis | Malformations of organs or body parts during development in utero. | A rare developmental defect in which the heart is abnormally located partially or totally outside the THORAX. It is the result of defective fusion of the anterior chest wall. Depending on the location of the heart, ectopia cordis can be thoracic, thoracoabdominal, abdominal, and cervical. |
C0000768 | isa | C0013581 | Congenital Abnormality | Ectopia Lentis | Malformations of organs or body parts during development in utero. | Congenital displacement of the lens resulting from defective zonule formation. |
C0000768 | isa | C0013743 | Congenital Abnormality | Eisenmenger Complex | Malformations of organs or body parts during development in utero. | A condition associated with VENTRICULAR SEPTAL DEFECT and other congenital heart defects that allow the mixing of pulmonary and systemic circulation, increase blood flow into the lung, and subsequent responses to low oxygen in blood. This complex is characterized by progressive PULMONARY HYPERTENSION; HYPERTROPHY of th... |
C0000768 | isa | C0013902 | Congenital Abnormality | Elliptocytosis, Hereditary | Malformations of organs or body parts during development in utero. | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. |
C0000768 | isa | C0014116 | Congenital Abnormality | Endocardial Cushion Defects | Malformations of organs or body parts during development in utero. | A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atriovent... |
C0000768 | isa | C0014850 | Congenital Abnormality | Esophageal Atresia | Malformations of organs or body parts during development in utero. | Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA. |
C0000768 | isa | C0016873 | Congenital Abnormality | Fused Teeth | Malformations of organs or body parts during development in utero. | Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both. |
C0000768 | isa | C0018816 | Congenital Abnormality | Congenital septal defect of heart | Malformations of organs or body parts during development in utero. | Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both. |
C0000768 | isa | C0019569 | Congenital Abnormality | Hirschsprung Disease | Malformations of organs or body parts during development in utero. | Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON. |
C0000768 | isa | C0020186 | Congenital Abnormality | Hutchinson's Teeth | Malformations of organs or body parts during development in utero. | An incisor with a half-moon shape incisal edge. [] |
C0000768 | isa | C0022578 | Congenital Abnormality | Keratoconus | Malformations of organs or body parts during development in utero. | A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus. |
C0000768 | isa | C0025312 | Congenital Abnormality | Meningomyelocele | Malformations of organs or body parts during development in utero. | Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with ... |
C0000768 | isa | C0025988 | Congenital Abnormality | Microglossia | Malformations of organs or body parts during development in utero. | Decreased length and width of the tongue. [PMID:19125428] |
C0000768 | isa | C0025990 | Congenital Abnormality | Micrognathism | Malformations of organs or body parts during development in utero. | Abnormally small jaw. |
C0000768 | isa | C0026505 | Congenital Abnormality | Monster (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0031575 | Congenital Abnormality | Phocomelia | Malformations of organs or body parts during development in utero. | Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal pa... |
C0000768 | isa | C0032044 | Congenital Abnormality | Placenta Accreta | Malformations of organs or body parts during development in utero. | Abnormal placentation in which all or parts of the PLACENTA are attached directly to the MYOMETRIUM due to a complete or partial absence of DECIDUA. It is associated with POSTPARTUM HEMORRHAGE because of the failure of placental separation. |
C0000768 | isa | C0032209 | Congenital Abnormality | Platybasia | Malformations of organs or body parts during development in utero. | A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed) |
C0000768 | isa | C0034084 | Congenital Abnormality | Infundibular pulmonic stenosis | Malformations of organs or body parts during development in utero. | Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue... |
C0000768 | isa | C0037205 | Congenital Abnormality | Sirenomelia | Malformations of organs or body parts during development in utero. | A rare, lethal, congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore, there is wide phenotipical variability in the musculoskeletal, central ne... |
C0000768 | isa | C0037221 | Congenital Abnormality | Situs Inversus | Malformations of organs or body parts during development in utero. | A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inve... |
C0000768 | isa | C0038505 | Congenital Abnormality | Sturge-Weber Syndrome | Malformations of organs or body parts during development in utero. | A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects. |
C0000768 | isa | C0039685 | Congenital Abnormality | Tetralogy of Fallot | Malformations of organs or body parts during development in utero. | A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS. |
C0000768 | isa | C0040427 | Congenital Abnormality | Tooth Abnormalities | Malformations of organs or body parts during development in utero. | Congenital absence of or defects in structures of the teeth. |
C0000768 | isa | C0040457 | Congenital Abnormality | Tooth, Supernumerary | Malformations of organs or body parts during development in utero. | An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. |
C0000768 | isa | C0041022 | Congenital Abnormality | Trilogy of Fallot | Malformations of organs or body parts during development in utero. | A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY. |
C0000768 | isa | C0041428 | Congenital Abnormality | Twins, Conjoined | Malformations of organs or body parts during development in utero. | MONOZYGOTIC TWINS who are joined in utero. They may be well developed and share only a superficial connection, often in the frontal, transverse or sagittal body plane, or they may share a partial duplication of a body structure. Alternatively, there may be a small and incompletely developed twin conjoined to a larger, ... |
C0000768 | isa | C0041960 | Congenital Abnormality | Ureterocele | Malformations of organs or body parts during development in utero. | A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow. |
C0000768 | isa | C0079037 | Congenital Abnormality | Branchial Cleft Anomalies | Malformations of organs or body parts during development in utero. | A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck. |
C0000768 | isa | C0080178 | Congenital Abnormality | Spina Bifida | Malformations of organs or body parts during development in utero. | Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete f... |
C0000768 | isa | C0085548 | Congenital Abnormality | Autosomal Recessive Polycystic Kidney Disease | Malformations of organs or body parts during development in utero. | A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY. |
C0000768 | isa | C0086664 | Congenital Abnormality | Myelocele | Malformations of organs or body parts during development in utero. | A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. |
C0000768 | isa | C0151489 | Congenital Abnormality | Arterial malformation | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0152096 | Congenital Abnormality | Complete trisomy 18 syndrome | Malformations of organs or body parts during development in utero. | a kind of genetic disease |
C0000768 | isa | C0152235 | Congenital Abnormality | Congenital genu recurvatum | Malformations of organs or body parts during development in utero. | A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an ... |
C0000768 | isa | C0152238 | Congenital Abnormality | Cor biloculare | Malformations of organs or body parts during development in utero. | A congenital anatomic anomaly in which the heart has only two chambers. |
C0000768 | isa | C0152422 | Congenital Abnormality | Congenital aphakia | Malformations of organs or body parts during development in utero. | The absence of the lens of the eye that is present at the time of birth. |
C0000768 | isa | C0152423 | Congenital Abnormality | Congenital small ears | Malformations of organs or body parts during development in utero. | A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the... |
C0000768 | isa | C0152426 | Congenital Abnormality | Craniorachischisis | Malformations of organs or body parts during development in utero. | Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. |
C0000768 | isa | C0152427 | Congenital Abnormality | Polydactyly | Malformations of organs or body parts during development in utero. | A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. |
C0000768 | isa | C0152444 | Congenital Abnormality | Hydromyelia | Malformations of organs or body parts during development in utero. | Abnormal widening of the central spinal canal. |
C0000768 | isa | C0155299 | Congenital Abnormality | Coloboma of optic disc | Malformations of organs or body parts during development in utero. | Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isol... |
C0000768 | isa | C0158543 | Congenital Abnormality | Congenital cystic eyeball | Malformations of organs or body parts during development in utero. | A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is compos... |
C0000768 | isa | C0158553 | Congenital Abnormality | Congenital anomaly of lens shape | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158599 | Congenital Abnormality | Preauricular cyst | Malformations of organs or body parts during development in utero. | Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcut... |
C0000768 | isa | C0158621 | Congenital Abnormality | Congenital subaortic stenosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158664 | Congenital Abnormality | Congenital adhesions of tongue | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158674 | Congenital Abnormality | Congenital hiatus hernia | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158684 | Congenital Abnormality | Anomalies of pancreas | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158687 | Congenital Abnormality | Congenital malformation of genital organs | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158698 | Congenital Abnormality | Congenital malformation of the urinary system | Malformations of organs or body parts during development in utero. | An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra. |
C0000768 | isa | C0158718 | Congenital Abnormality | Congenital dislocation of knee with genu recurvatum | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158720 | Congenital Abnormality | Congenital bowing of tibia and/or fibula | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158779 | Congenital Abnormality | Cervical rib | Malformations of organs or body parts during development in utero. | A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions. |
C0000768 | isa | C0158784 | Congenital Abnormality | Accessory skeletal muscle | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0158795 | Congenital Abnormality | Other and unspecified congenital anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0175754 | Congenital Abnormality | Agenesis of corpus callosum | Malformations of organs or body parts during development in utero. | Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable ... |
C0000768 | isa | C0206554 | Congenital Abnormality | Odontodysplasia | Malformations of organs or body parts during development in utero. | A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp an... |
C0000768 | isa | C0220687 | Congenital Abnormality | KBG syndrome | Malformations of organs or body parts during development in utero. | A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities. |
C0000768 | isa | C0220744 | Congenital Abnormality | Intestinal Atresia, Multiple | Malformations of organs or body parts during development in utero. | Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. |
C0000768 | isa | C0220766 | Congenital Abnormality | Congenital hypoplasia of adrenal gland | Malformations of organs or body parts during development in utero. | A type of adrenal hypoplasia with congenital onset. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C0221025 | Congenital Abnormality | Kasabach-Merritt syndrome | Malformations of organs or body parts during development in utero. | Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA. |
C0000768 | isa | C0221216 | Congenital Abnormality | Congenital melanosis | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0221217 | Congenital Abnormality | Neck webbing | Malformations of organs or body parts during development in utero. | Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. [https://orcid.org/0000-0... |
C0000768 | isa | C0221218 | Congenital Abnormality | Fordyce's disease | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0221219 | Congenital Abnormality | Ectopic pancreas | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0221366 | Congenital Abnormality | Embryonic cyst of Gartner's duct | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C0235833 | Congenital Abnormality | Congenital diaphragmatic hernia | Malformations of organs or body parts during development in utero. | Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can be isolated, syndromic, non-syndromic or be a part of chromosome abnormality. Associated pulmonary hypoplasia and PULMONARY HYPERTENSION can further complicate stabilizatio... |
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