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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
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
Myeloid leukemia associated with Down syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Periodontitis co-occurrent with Down syndrome Occurrence False Congenital Inferred relationship Some 2
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. Occurrence True Congenital Inferred relationship Some 1
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 20 (disorder) Occurrence True Congenital Inferred relationship Some 1
20q partial trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. Occurrence True Congenital Inferred relationship Some 2
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features. Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (including large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastroesophageal and urogenital anomalies. Occurrence True Congenital Inferred relationship Some 2
14q partial trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
14q partial proximal trisomy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia. Occurrence True Congenital Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Occurrence True Congenital Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Occurrence True Congenital Inferred relationship Some 1
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. Occurrence True Congenital Inferred relationship Some 1
Homozygous hereditary elliptocytosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Adenosine deaminase 2 deficiency Occurrence True Congenital Inferred relationship Some 1
5p partial trisomy Occurrence True Congenital Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 1
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Occurrence True Congenital Inferred relationship Some 1
Acute sequestration of spleen due to sickle cell thalassemia with crisis (disorder) Occurrence True Congenital Inferred relationship Some 3
Acute splenic sequestration due to sickle cell hemoglobin C disease with crisis Occurrence True Congenital Inferred relationship Some 3
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Occurrence True Congenital Inferred relationship Some 2
22q11 partial monosomy syndrome Occurrence False Congenital Inferred relationship Some 2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. Occurrence True Congenital Inferred relationship Some 1
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. Occurrence True Congenital Inferred relationship Some 1
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Occurrence True Congenital Inferred relationship Some 2
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Occurrence True Congenital Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. Occurrence True Congenital Inferred relationship Some 1
Congenital chondrolysis Occurrence True Congenital Inferred relationship Some 1
Supernumerary bone of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of blood vessel of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dilatation of common bile duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Cystic dysplasia of kidney (disorder) Occurrence True Congenital Inferred relationship Some 2
Cystic dysplasia of kidney (disorder) Occurrence True Congenital Inferred relationship Some 1
Supernumerary eye muscle Occurrence True Congenital Inferred relationship Some 1
Oligosaccharidosis (disorder) Occurrence True Congenital Inferred relationship Some 1
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Occurrence True Congenital Inferred relationship Some 3
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Occurrence True Congenital Inferred relationship Some 4
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Occurrence True Congenital Inferred relationship Some 4
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Occurrence True Congenital Inferred relationship Some 6
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 2
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. Occurrence True Congenital Inferred relationship Some 3
A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 2
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. Occurrence True Congenital Inferred relationship Some 2
Cholestanol storage disease Occurrence False Congenital Inferred relationship Some 1
Synthetic defect of bile acids Occurrence True Congenital Inferred relationship Some 1
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. Occurrence True Congenital Inferred relationship Some 2
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Occurrence True Congenital Inferred relationship Some 2
A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated. Occurrence True Congenital Inferred relationship Some 3
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. Occurrence True Congenital Inferred relationship Some 2
Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. Occurrence True Congenital Inferred relationship Some 2
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. Occurrence True Congenital Inferred relationship Some 3
Cardiac glycogenosis Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease. Occurrence True Congenital Inferred relationship Some 2
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 5
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 18p Occurrence True Congenital Inferred relationship Some 2
Tetrasomy of short arm of chromosome 9 (disorder) Occurrence True Congenital Inferred relationship Some 1
Right accessory carpal bone of wrist Occurrence True Congenital Inferred relationship Some 1
Accessory carpal bone of bilateral wrists (disorder) Occurrence True Congenital Inferred relationship Some 2
Accessory carpal bone of bilateral wrists (disorder) Occurrence True Congenital Inferred relationship Some 1
Left accessory carpal bone of wrist Occurrence True Congenital Inferred relationship Some 1
Adrenocorticotropic hormone resistance syndrome Occurrence True Congenital Inferred relationship Some 1
Glucocorticoid deficiency with achalasia Occurrence True Congenital Inferred relationship Some 4
Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. Occurrence True Congenital Inferred relationship Some 2
Left metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Right metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Metatarsus primus varus of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Metatarsus primus varus of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to ureteral orifice obstruction Occurrence True Congenital Inferred relationship Some 2
Congenital obstruction of ureter (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to urinary bladder obstruction Occurrence True Congenital Inferred relationship Some 3
Congenital hydronephrosis due to ureteropelvic junction obstruction (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital hydronephrosis due to ureteropelvic junction obstruction (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital lumbosacral spondylolisthesis Occurrence True Congenital Inferred relationship Some 1
Mild androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Some 2
Mild androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Some 1
Infertile male syndrome Occurrence True Congenital Inferred relationship Some 2
Infertile male syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital talipes equinovarus Occurrence True Congenital Inferred relationship Some 2
Congenital talipes equinovarus Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability hypotonic face syndrome Occurrence True Congenital Inferred relationship Some 1
Fatty acid oxidation defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Occurrence True Congenital Inferred relationship Some 1
Congenital pterygium of nail (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital arcus juvenilis Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
X-linked complex hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
X-linked complex hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2

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