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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypoplasia of quadriceps femoris muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of renal pyramid structure (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of retina (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of right breast (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of spinal cord white matter column (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of sweat gland (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of sebaceous gland (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of serratus anterior muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of second metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of semicircular canal (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of small intestine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of skin (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of right side of chest (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of scapula (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of corticospinal tract (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of triceps brachii muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of third metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of ureter (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of vertebral column (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of vertebra (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of vertebral artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of female external genitalia Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of vestibular structure of inner ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of vestibular nerve (disorder) Occurrence True Congenital Inferred relationship Some 1
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. Occurrence True Congenital Inferred relationship Some 1
A rare multiple epiphyseal dysplasia characterized by mild short stature, joint pain and early-onset osteoarthropathy, frequently requiring joint replacement. Radiographs from affected individuals may manifest features typical of Desbuquois dysplasia, including irregularly shaped capital femoral epiphyses, a short femoral neck (resembles the Swedish key appearance of the proximal femur) and advanced carpal ossification in the hands. However, some other features typical of Desbuquois dysplasia like joint dislocations, scoliosis, coronal clefts, or other hand anomalies including accessory ossification centers and/or delta phalanx are not observed. Anterior wedging of vertebral bodies, small epiphyses at the knees with metaphyseal flare may be present. Patients have normal metacarpal and phalangeal lengths, no distinctive facies nor neurologic complications. Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of brain (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of cerebrum Occurrence True Congenital Inferred relationship Some 1
Single congenital cyst of brain Occurrence True Congenital Inferred relationship Some 1
Single congenital cyst of cerebrum (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple congenital cysts of brain (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple congenital cysts of cerebrum Occurrence True Congenital Inferred relationship Some 1
A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfunction may not be evident in the patients. Occurrence True Congenital Inferred relationship Some 2
A rare skeletal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnoea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present. Occurrence True Congenital Inferred relationship Some 1
Left lung isomerism is a congenital condition in which both lungs develop with the anatomical structure of a left lung. Normally, the left lung has two lobes (upper and lower), while the right lung has three lobes (upper, middle, and lower). In this condition, however, the abnormal right lung is also bilobed, resulting in bilateral bilobed lungs. Occurrence True Congenital Inferred relationship Some 1
Beta thalassemia major in mother complicating pregnancy Occurrence True Congenital Inferred relationship Some 1
Beta thalassemia trait in mother complicating pregnancy (disorder) Occurrence True Congenital Inferred relationship Some 2
Alpha thalassemia trait in mother complicating pregnancy (disorder) Occurrence True Congenital Inferred relationship Some 1
Duane's syndrome of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 4
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of left ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of right ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. Occurrence True Congenital Inferred relationship Some 2
2q33.1 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
2q33.1 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
A rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops. Cortical thickening throughout the skeleton, particularly in the long bones and ribs, brachycephaly, severe brachydactyly and craniofacial abnormalities are reported. Occurrence True Congenital Inferred relationship Some 1
Dysplastic cortical hyperostosis Kozlowski Tsuruta type is a form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening was reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios. Occurrence True Congenital Inferred relationship Some 1
Dysplastic cortical hyperostosis Al-Gazali type is a form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios. Occurrence True Congenital Inferred relationship Some 1
A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. Occurrence True Congenital Inferred relationship Some 1
A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. Occurrence True Congenital Inferred relationship Some 2
A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. Occurrence True Congenital Inferred relationship Some 3
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and sagittal sutures. Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and sagittal sutures. Occurrence True Congenital Inferred relationship Some 2
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and sagittal sutures. Occurrence True Congenital Inferred relationship Some 3
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing. Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing. Occurrence True Congenital Inferred relationship Some 2
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing. Occurrence True Congenital Inferred relationship Some 3
Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. Occurrence True Congenital Inferred relationship Some 1
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Occurrence True Congenital Inferred relationship Some 4
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Occurrence True Congenital Inferred relationship Some 3
Congenital disorder of glycosylation type 1cc Occurrence True Congenital Inferred relationship Some 1
Abnormally short condyloid process of mandible (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short digit Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of middle finger Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of third toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of fourth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of fifth toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of thumb Occurrence True Congenital Inferred relationship Some 1
Abnormally short distal phalanx of finger Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly. Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly. Occurrence True Congenital Inferred relationship Some 2
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly. Occurrence True Congenital Inferred relationship Some 3
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly. Occurrence True Congenital Inferred relationship Some 4
Hemoglobin Iraq-Halabja trait (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short index finger Occurrence True Congenital Inferred relationship Some 1
Abnormally short fourth metacarpal Occurrence True Congenital Inferred relationship Some 1
Abnormally short fifth metatarsal Occurrence True Congenital Inferred relationship Some 1
Abnormally short little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short fourth metatarsal (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short fifth metacarpal Occurrence True Congenital Inferred relationship Some 1
Abnormally short first metacarpal (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short ilium (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short long bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short fourth toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral ectopic testes (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral ectopic testes (disorder) Occurrence True Congenital Inferred relationship Some 2
Left ectopic testis (disorder) Occurrence True Congenital Inferred relationship Some 1
Right ectopic testis (disorder) Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the unicoronal and sagittal sutures, resulting in anterior plagiocephaly with contralateral frontal bulging and elongated head shape (turricephaly). Orbital abnormality and strabismus are associated features. Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the unicoronal and sagittal sutures, resulting in anterior plagiocephaly with contralateral frontal bulging and elongated head shape (turricephaly). Orbital abnormality and strabismus are associated features. Occurrence True Congenital Inferred relationship Some 2
Congenital asymmetry of kidneys (disorder) Occurrence True Congenital Inferred relationship Some 1

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