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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
Vascular ring with left aortic arch and retrotracheal right patent arterial duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Anterior lenticonus Occurrence True Congenital Inferred relationship Some 1
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. Occurrence True Congenital Inferred relationship Some 1
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Occurrence True Congenital Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. Occurrence True Congenital Inferred relationship Some 2
Reduction anomaly of hypothalamus Occurrence False Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Occurrence True Congenital Inferred relationship Some 1
Bipartite ossification of interparietal bone Occurrence True Congenital Inferred relationship Some 1
Encephalocele of orbit Occurrence True Congenital Inferred relationship Some 2
Vascular ring with left aortic arch and right arterial ligament (disorder) Occurrence True Congenital Inferred relationship Some 1
Cecoureterocele (disorder) Occurrence False Congenital Inferred relationship Some 2
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Occurrence True Congenital Inferred relationship Some 6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. Occurrence True Congenital Inferred relationship Some 1
Paired teeth microdontia (disorder) Occurrence False Congenital Inferred relationship Some 1
Bipartite ossification of centrum of lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. Occurrence True Congenital Inferred relationship Some 4
Congenital clubnail Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome Occurrence True Congenital Inferred relationship Some 3
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 1
Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. Occurrence True Congenital Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Occurrence True Congenital Inferred relationship Some 3
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Occurrence True Congenital Inferred relationship Some 5
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Occurrence True Congenital Inferred relationship Some 3
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Occurrence False Congenital Inferred relationship Some 2
Localized microdontia Occurrence False Congenital Inferred relationship Some 1
Single tooth microdontia Occurrence False Congenital Inferred relationship Some 1
Omphalocele with gangrene Occurrence True Congenital Inferred relationship Some 3
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Occurrence False Congenital Inferred relationship Some 3
Periodontitis co-occurrent with Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Some 2
Congenital posterolateral diaphragmatic hernia (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 5
Congenital conductive hearing loss Occurrence True Congenital Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 4
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 2
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Occurrence True Congenital Inferred relationship Some 3
Immature ganglionosis of large intestine (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 2
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Occurrence True Congenital Inferred relationship Some 2
True generalized microdontia Occurrence False Congenital Inferred relationship Some 1
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Occurrence True Congenital Inferred relationship Some 3
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
megacolôn congénital idiopathique Occurrence False Congenital Inferred relationship Some 1
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Occurrence True Congenital Inferred relationship Some 2
Drash syndrome Occurrence True Congenital Inferred relationship Some 1
Endocardial fibroelastosis of right atrium Occurrence True Congenital Inferred relationship Some 1
Small left colon syndrome Occurrence True Congenital Inferred relationship Some 1
Xeroderma, talipes and enamel defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Xeroderma, talipes and enamel defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Cyanotic congenital heart disease Occurrence True Congenital Inferred relationship Some 1
Obstructed interchordal space of tricuspid chordae tendinae (disorder) Occurrence True Congenital Inferred relationship Some 1
Micromelic spondyloepimetaphyseal dysplasia Occurrence False Congenital Inferred relationship Some 1
Dental midlines coincident and incorrect Occurrence False Congenital Inferred relationship Some 1
Finnish congenital nephrotic syndrome Occurrence True Congenital Inferred relationship Some 1
Primary endocardial fibroelastosis of right ventricle Occurrence False Congenital Inferred relationship Some 1
Hyperganglionosis Occurrence True Congenital Inferred relationship Some 1
Fetal malformation of central nervous system Occurrence False Congenital Inferred relationship Some 1
Primary endocardial fibroelastosis of left ventricle Occurrence False Congenital Inferred relationship Some 1
Tripartite right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Right atrial appendage - left - juxtaposition Occurrence True Congenital Inferred relationship Some 1
Endocardial fibroelastosis unassociated with other cardiac abnormalities. Occurrence False Congenital Inferred relationship Some 1
Prolapse of Eustachian valve through atrial septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Cutis marmorata Occurrence True Congenital Inferred relationship Some 1
Prolapse of Eustachian valve through tricuspid valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Unipartite right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Prominent valve of inferior vena cava Occurrence True Congenital Inferred relationship Some 1
Obstructive Eustachian valve Occurrence True Congenital Inferred relationship Some 1
Prolapse of Eustachian valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital fissure of nose Occurrence True Congenital Inferred relationship Some 1
Thoracolumbar spina bifida with hydrocephalus - closed (disorder) Occurrence True Congenital Inferred relationship Some 1
Omphalocele with obstruction Occurrence True Congenital Inferred relationship Some 2
Omphalocele with obstruction Occurrence True Congenital Inferred relationship Some 1
Thoracic spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Mandibuloacral dysostosis Occurrence True Congenital Inferred relationship Some 1
Mandibuloacral dysostosis Occurrence False Congenital Inferred relationship Some 4
Spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Beckwith-Wiedemann syndrome Occurrence True Congenital Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. Occurrence True Congenital Inferred relationship Some 3
Omphalocele with gangrene Occurrence True Congenital Inferred relationship Some 2
Hepatomphalocele Occurrence True Congenital Inferred relationship Some 2
Spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Fissured spine with hydrocephalus Occurrence False Congenital Inferred relationship Some 2
Congenital omphalocele Occurrence True Congenital Inferred relationship Some 2
Congenital omphalocele Occurrence True Congenital Inferred relationship Some 1
Gastroschisis Occurrence True Congenital Inferred relationship Some 1
Gastroschisis Occurrence True Congenital Inferred relationship Some 2
Periodontal Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Simple omphalocele Occurrence False Congenital Inferred relationship Some 1
Simple omphalocele Occurrence False Congenital Inferred relationship Some 2
Thoracic hydromeningocele Occurrence False Congenital Inferred relationship Some 3
Lumbar spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 2
Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre Occurrence False Congenital Inferred relationship Some 1
Double outlet left ventricle Occurrence True Congenital Inferred relationship Some 4

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