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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
Accessory hepatic duct Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of the anterior nares (disorder) Occurrence True Congenital Inferred relationship Some 1
Occipital meningocele (disorder) Occurrence True Congenital Inferred relationship Some 1
Pulmonary valve overriding ventricular septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of mitral valve Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of aortic arch Occurrence True Congenital Inferred relationship Some 1
Congenital elephantiasis Occurrence True Congenital Inferred relationship Some 1
Truncal valve overriding ventricular septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Fenestrated interatrial communication within oval fossa (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital obstruction of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of vena cava (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital exophthalmos Occurrence True Congenital Inferred relationship Some 1
Congenital mass of mitral leaflet (disorder) Occurrence True Congenital Inferred relationship Some 1
Redundant prepuce Occurrence True Congenital Inferred relationship Some 1
Congenital hepatic fibrosis Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of inferior vena cava Occurrence True Congenital Inferred relationship Some 1
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients. Occurrence True Congenital Inferred relationship Some 2
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients. Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of pulmonary valve Occurrence True Congenital Inferred relationship Some 1
Microcolon Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of aortic valve Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of cardiac valve Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of external auditory canal Occurrence True Congenital Inferred relationship Some 1
Calcific aortic stenosis - bicuspid valve Occurrence True Congenital Inferred relationship Some 1
Frontal bossing Occurrence True Congenital Inferred relationship Some 1
Congenital obstruction of neck of urinary bladder Occurrence True Congenital Inferred relationship Some 1
Congenital chylothorax Occurrence True Congenital Inferred relationship Some 1
Spleen in right sided position (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hourglass stomach Occurrence True Congenital Inferred relationship Some 1
Right inferior vena cava connecting to left atrium and right atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital obstruction of bile duct Occurrence True Congenital Inferred relationship Some 1
Congenital obstruction of urethra Occurrence True Congenital Inferred relationship Some 1
obstruction congénitale d'un canalicule lacrymal Occurrence False Congenital Inferred relationship Some 1
Congenital obstruction of lacrimal canal Occurrence True Congenital Inferred relationship Some 1
Congenital obstruction of ureteropelvic junction Occurrence True Congenital Inferred relationship Some 1
Congenital nasolacrimal duct obstruction Occurrence True Congenital Inferred relationship Some 1
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. Occurrence True Congenital Inferred relationship Some 1
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 8
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 6
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 7
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. Occurrence True Congenital Inferred relationship Some 6
Iniencephaly - open Occurrence True Congenital Inferred relationship Some 5
Parachute malformation of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence True Congenital Inferred relationship Some 1
Amish lethal microcephaly (disorder) Occurrence True Congenital Inferred relationship Some 1
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. Occurrence True Congenital Inferred relationship Some 2
An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures. Occurrence True Congenital Inferred relationship Some 3
Hitch-hiker thumb Occurrence True Congenital Inferred relationship Some 1
Dysmorphic sialidosis, congenital form Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Occurrence True Congenital Inferred relationship Some 5
Congenital hydronephrosis due to ureteral obstruction (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to urinary bladder obstruction Occurrence True Congenital Inferred relationship Some 1
Congenital retinoschisis Occurrence True Congenital Inferred relationship Some 2
Congenital retinoschisis Occurrence True Congenital Inferred relationship Some 1
Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21. Occurrence True Congenital Inferred relationship Some 2
Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21. Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to ureteral orifice obstruction Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant sideroblastic anemia (disorder) Occurrence True Congenital Inferred relationship Some 1
Hemoglobin C beta thalassemia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital microencephaly (disorder) Occurrence True Congenital Inferred relationship Some 1
Haemoglobin Paksé disease Occurrence True Congenital Inferred relationship Some 2
Hemoglobin Seal Rock disease (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital pigmented melanocytic nevus of skin of right ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of left ear Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of lip Occurrence True Congenital Inferred relationship Some 1
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Microcephaly with simplified gyral pattern Occurrence True Congenital Inferred relationship Some 2
Infection of urachal sinus Occurrence True Congenital Inferred relationship Some 2
Infection of urachal remnant (disorder) Occurrence True Congenital Inferred relationship Some 2
Infection of urachal sinus Occurrence True Congenital Inferred relationship Some 1
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Occurrence True Congenital Inferred relationship Some 2
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Occurrence True Congenital Inferred relationship Some 3
Curry-Hall syndrome Occurrence True Congenital Inferred relationship Some 5
7q partial trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. Occurrence True Congenital Inferred relationship Some 3
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 3
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. Occurrence True Congenital Inferred relationship Some 1
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. Occurrence True Congenital Inferred relationship Some 1
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebrows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. Occurrence True Congenital Inferred relationship Some 2
Medial duplication of long arm of chromosome 7 (disorder) Occurrence True Congenital Inferred relationship Some 3
Proximal deletion of long arm of chromosome 10 (disorder) Occurrence True Congenital Inferred relationship Some 2
7p partial trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. Occurrence True Congenital Inferred relationship Some 2
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. Occurrence True Congenital Inferred relationship Some 2
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 2
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. Occurrence True Congenital Inferred relationship Some 1
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare genetic neurodevelopmental disorder characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Occurrence True Congenital Inferred relationship Some 2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin. For certain very distal deletions including the SMARCB1 gene, there is a risk of developing malignant rhabdoid tumors. Most deletions are de novo. Occurrence True Congenital Inferred relationship Some 1
22q partial trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (including microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip and/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from an asymptomatic parent. Occurrence True Congenital Inferred relationship Some 2
21q partial trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
Trisomy 21- mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Some 2
21q partial distal trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
Translocation Down syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 6

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