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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
Retroaortic brachiocephalic vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Interatrial communication through coronary sinus orifice (disorder) Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder) 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 1
Total anomalous pulmonary venous connection of supracardiac type (disorder) Occurrence True Congenital Inferred relationship Some 1
Coarctation of right pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Total anomalous pulmonary venous connection of intracardiac type (disorder) Occurrence True Congenital Inferred relationship Some 1
Infracardiac location of anomalous pulmonary venous connection (disorder) Occurrence True Congenital Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Total anomalous pulmonary venous connection of infracardiac type (disorder) Occurrence True Congenital Inferred relationship Some 1
Coarctation of left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular valve in functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subpulmonary ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Left inferior vena cava connecting to left sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Left inferior vena cava connecting to right sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal origin of brachiocephalic artery with tracheal compression (disorder) Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 2
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital syphilitic osteochondritis Occurrence True Congenital Inferred relationship Some 2
Congenital syphilitic osteochondritis Occurrence True Congenital Inferred relationship Some 1
Desmosterolosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Occurrence False Congenital Inferred relationship Some 2
Thrombocytopathy, asplenia and miosis (disorder) Occurrence True Congenital Inferred relationship Some 5
A rare X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. Occurrence True Congenital Inferred relationship Some 2
Infective endarteritis at site of aortopulmonary window Occurrence True Congenital Inferred relationship Some 2
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 2
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 2
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 3
Fibrous dysplasia of bone with intramuscular myxoma Occurrence True Congenital Inferred relationship Some 2
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Occurrence True Congenital Inferred relationship Some 4
Multiple venous malformation of skin and mucous membrane (disorder) Occurrence True Congenital Inferred relationship Some 2
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 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 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence True Congenital Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence True Congenital Inferred relationship Some 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence True Congenital Inferred relationship Some 5
Kuskokwim syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephaly-capillary malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence True Congenital Inferred relationship Some 6
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence True Congenital Inferred relationship Some 7
Muscular ventricular septal defect in trabecular septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital organoaxial volvulus of stomach (disorder) Occurrence True Congenital Inferred relationship Some 1
Pancreas divisum Occurrence True Congenital Inferred relationship Some 2
Synchilia (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft leaflet of tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Imperforate hymen Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of neck (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of scalp (disorder) Occurrence True Congenital Inferred relationship Some 1
Situs inversus abdominalis Occurrence True Congenital Inferred relationship Some 1
Congenital mesenteroaxial volvulus of stomach Occurrence True Congenital Inferred relationship Some 1
Erythrokeratodermia variabilis Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive dyskeratosis congenita Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Occurrence True Congenital Inferred relationship Some 2
X-linked dyskeratosis congenita (disorder) Occurrence True Congenital Inferred relationship Some 2
Situs inversus thoracis Occurrence True Congenital Inferred relationship Some 1
Hereditary elliptocytosis due to abnormal protein 4.1 Occurrence True Congenital Inferred relationship Some 4
Fibrous dysplasia of jaw Occurrence True Congenital Inferred relationship Some 1
Duchenne muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Angelman syndrome Occurrence True Congenital Inferred relationship Some 1
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 3
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
Complete phocomelia of upper limb Occurrence True Congenital Inferred relationship Some 1
Cleft leaflet of mitral valve Occurrence True Congenital Inferred relationship Some 1
Familial articular hypermobility syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Hereditary elliptocytosis due to beta spectrin defect in self-association Occurrence True Congenital Inferred relationship Some 4
Marshall-Smith syndrome Occurrence True Congenital Inferred relationship Some 2
Kommerell's diverticulum Occurrence True Congenital Inferred relationship Some 1
Mucopolysaccharidosis, MPS-IV-A Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 5
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Septo-optic dysplasia sequence Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Occurrence True Congenital Inferred relationship Some 6
A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth. Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) Occurrence True Congenital Inferred relationship Some 4
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. Occurrence True Congenital Inferred relationship Some 3
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. Occurrence True Congenital Inferred relationship Some 4
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. Occurrence True Congenital Inferred relationship Some 9
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Occurrence False Congenital Inferred relationship Some 6
A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 5
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Occurrence False Congenital Inferred relationship Some 4
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease of rectosigmoid region (disorder) Occurrence True Congenital Inferred relationship Some 3
Extensive aganglionosis Hirschsprung disease (disorder) Occurrence True Congenital Inferred relationship Some 3
syndrome d'Okamoto Occurrence False Congenital Inferred relationship Some 4
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. Occurrence True Congenital Inferred relationship Some 4
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Occurrence True Congenital Inferred relationship Some 11
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. Occurrence False Congenital Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. Occurrence False Congenital Inferred relationship Some 3
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. Occurrence True Congenital Inferred relationship Some 3
Retinohepatoendocrinologic syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Retinohepatoendocrinologic syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
X-linked hereditary spastic paraplegia (disorder) Occurrence False Congenital Inferred relationship Some 2

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