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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
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. Occurrence True Congenital Inferred relationship Some 2
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of short arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 2
Partial trisomy of short arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 1
Partial trisomy of long arm of chromosome 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
Partial trisomy of long arm of chromosome 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Coloboma of choroid and retina Occurrence True Congenital Inferred relationship Some 1
Coloboma of choroid and retina Occurrence True Congenital Inferred relationship Some 2
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. Occurrence True Congenital Inferred relationship Some 1
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). Occurrence True Congenital Inferred relationship Some 2
Monocuspid cardiac valve Occurrence True Congenital Inferred relationship Some 1
Quadricuspid cardiac valve Occurrence True Congenital Inferred relationship Some 1
Vaso-occlusive pain co-occurrent and due to sickle cell disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect - isolated atrial component Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect - isolated atrial component Occurrence True Congenital Inferred relationship Some 1
Anomalous origin of single coronary artery from nonfacing aortic sinus (disorder) Occurrence True Congenital Inferred relationship Some 2
Anomalous origin of single coronary artery from aortic sinus to left of nonfacing aortic sinus Occurrence False Congenital Inferred relationship Some 2
Anomalous origin of single coronary artery from aortic sinus to right of nonfacing aortic sinus Occurrence False Congenital Inferred relationship Some 2
Perimembranous ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder) Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple muscular ventricular septum defect Occurrence True Congenital Inferred relationship Some 1
Confluent muscular ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) Occurrence True Congenital Inferred relationship Some 3
Anomalous origin of coronary artery from aortic sinus to right of nonfacing aortic sinus Occurrence False Congenital Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septum defect Occurrence True Congenital Inferred relationship Some 1
L - transposition of the great vessels (disorder) Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder) Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder) Occurrence True Congenital Inferred relationship Some 3
Single muscular ventricular septum defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Cor triloculare Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subpulmonary ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Two atrioventricular valves in double inlet ventricle (disorder) Occurrence False Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular canal Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular canal Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 2
Right sided atrium connecting to right ventricle Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with additional muscular ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Right sided atrium connecting to both ventricles Occurrence True Congenital Inferred relationship Some 1
Non-restrictive ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Endocardial cushion defect Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with malaligned outlet septum to right Occurrence True Congenital Inferred relationship Some 2
Congenital ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Anomalous origin of coronary artery from aortic sinus to left of nonfacing aortic sinus Occurrence False Congenital Inferred relationship Some 2
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder) Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with malaligned outlet septum to left Occurrence True Congenital Inferred relationship Some 2
Atrial septal defect with endocardial cushion defect, partial type Occurrence False Congenital Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder) Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus Occurrence True Congenital Inferred relationship Some 3
D - transposition of the great vessels (disorder) Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septal defect in marginal septum Occurrence True Congenital Inferred relationship Some 1
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder) Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with malaligned outlet septum to right Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with malaligned outlet septum to left Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder) Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Occurrence True Congenital Inferred relationship Some 3
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) Occurrence True Congenital Inferred relationship Some 3
Ventricular septal defect with malaligned outlet septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 2
Common arterial trunk with pulmonary origin from truncal valve sinus (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with obstruction of aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 2
Common arterial trunk with isolated pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with crossed over pulmonary arteries (disorder) Occurrence True Congenital Inferred relationship Some 1
Truncus arteriosus, Edwards' type IV Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk and widely separate origin of pulmonary arteries (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk and common origin of pulmonary arteries (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk and separate origin of pulmonary arteries (disorder) Occurrence True Congenital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 5 (disorder) Occurrence True Congenital Inferred relationship Some 1
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. Occurrence True Congenital Inferred relationship Some 1
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. Occurrence True Congenital Inferred relationship Some 2
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. Occurrence True Congenital Inferred relationship Some 1
Congenital web of esophagus Occurrence True Congenital Inferred relationship Some 1
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophrys, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. Occurrence True Congenital Inferred relationship Some 1
Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. Occurrence True Congenital Inferred relationship Some 1
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 4
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 3
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 1
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 2
Uterus unicornis Occurrence True Congenital Inferred relationship Some 1
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. Occurrence True Congenital Inferred relationship Some 1
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. Occurrence True Congenital Inferred relationship Some 2
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). Occurrence True Congenital Inferred relationship Some 1
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). Occurrence True Congenital Inferred relationship Some 2
Maternal uniparental disomy of chromosome 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Occurrence True Congenital Inferred relationship Some 2
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Occurrence True Congenital Inferred relationship Some 1
Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life. Occurrence True Congenital Inferred relationship Some 1
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Occurrence True Congenital Inferred relationship Some 1
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Occurrence True Congenital Inferred relationship Some 3
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Occurrence True Congenital Inferred relationship Some 2

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