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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
Infantile cortical hyperostosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Infantile cortical hyperostosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Langer mesomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus of late onset Occurrence True Congenital Inferred relationship Some 3
Spina bifida with hydrocephalus of late onset Occurrence True Congenital Inferred relationship Some 1
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. Occurrence True Congenital Inferred relationship Some 2
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. Occurrence True Congenital Inferred relationship Some 1
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. Occurrence True Congenital Inferred relationship Some 3
Spina bifida without hydrocephalus Occurrence True Congenital Inferred relationship Some 2
Fibrous dysplasia Occurrence False Congenital Inferred relationship Some 1
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Occurrence True Congenital Inferred relationship Some 2
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder) Occurrence False Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. Occurrence True Congenital Inferred relationship Some 1
Preaxial polydactyly of toe Occurrence True Congenital Inferred relationship Some 1
Brachymetapody Occurrence False Congenital Inferred relationship Some 1
Brachymetapody Occurrence False Congenital Inferred relationship Some 2
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. Occurrence True Congenital Inferred relationship Some 2
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated. Occurrence True Congenital Inferred relationship Some 2
Spondylodysplasia, Torrance type Occurrence True Congenital Inferred relationship Some 1
Cystic testicular dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Podencephalus Occurrence False Congenital Inferred relationship Some 1
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Occurrence True Congenital Inferred relationship Some 2
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Occurrence True Congenital Inferred relationship Some 1
Leptocephaly Occurrence True Congenital Inferred relationship Some 1
Congenital coronary arteriovenous fistula Occurrence True Congenital Inferred relationship Some 1
Persistent dorsal mesentery Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. Occurrence True Congenital Inferred relationship Some 2
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Color changes during tooth formation Occurrence False Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage Occurrence True Congenital Inferred relationship Some 1
Nasal encephalocele Occurrence False Congenital Inferred relationship Some 3
Left ventricular outflow tract obstruction due to prolapsed arterial valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Geographic retinal dysplasia Occurrence True Congenital Inferred relationship Some 1
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Occurrence True Congenital Inferred relationship Some 2
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Occurrence True Congenital Inferred relationship Some 3
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Occurrence True Congenital Inferred relationship Some 1
Hyperplastic chondrodystrophy Occurrence False Congenital Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. Occurrence True Congenital Inferred relationship Some 1
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Occurrence True Congenital Inferred relationship Some 3
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Occurrence True Congenital Inferred relationship Some 1
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Occurrence True Congenital Inferred relationship Some 2
Cervical hemivertebra- balanced Occurrence True Congenital Inferred relationship Some 1
Disseminated superficial actinic porokeratosis Occurrence True Congenital Inferred relationship Some 1
Spondyloenchondromatosis with basal ganglia calcification (disorder) Occurrence False Congenital Inferred relationship Some 1
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. Occurrence True Congenital Inferred relationship Some 2
Colloid cyst of third ventricle Occurrence False Congenital Inferred relationship Some 1
Dyskeratosis congenita Occurrence True Congenital Inferred relationship Some 1
Bowed tibia, radial anomaly, osteopenia, fracture syndrome Occurrence False Congenital Inferred relationship Some 1
Derencephalus Occurrence True Congenital Inferred relationship Some 1
Bruck syndrome Occurrence False Congenital Inferred relationship Some 1
Reifenstein syndrome Occurrence False Congenital Inferred relationship Some 2
Congenital arteriovenous fistula haemorrhage Occurrence True Congenital Inferred relationship Some 1
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Occurrence True Congenital Inferred relationship Some 1
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Occurrence True Congenital Inferred relationship Some 1
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Occurrence True Congenital Inferred relationship Some 2
Nemaline myopathy, early onset type Occurrence True Congenital Inferred relationship Some 1
Nasal glial heterotopia Occurrence False Congenital Inferred relationship Some 2
Nasal glial heterotopia Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of epiglottis Occurrence True Congenital Inferred relationship Some 1
Congenital contracted pelvis Occurrence True Congenital Inferred relationship Some 1
Subdiaphragmatic total anomalous pulmonary venous return Occurrence True Congenital Inferred relationship Some 1
Congenital pharyngeal polyp Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. Occurrence True Congenital Inferred relationship Some 2
Membranous ventricular septum defect Occurrence True Congenital Inferred relationship Some 1
Congenital volvulus Occurrence True Congenital Inferred relationship Some 1
Double outlet left atrium Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive aplasia cutis congenita of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Occurrence False Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Occurrence True Congenital Inferred relationship Some 2
Congenital intrahepatic portal-systemic shunt Occurrence True Congenital Inferred relationship Some 1
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital bilateral perisylvian syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Atresia of larynx and trachea Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to atrioventricular valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Anophthalmos 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 1
Cleft hard palate with left cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Hyperplasia of islet alpha cells with glucagon excess Occurrence True Congenital Inferred relationship Some 1
Postaxial polydactyly of toe Occurrence True Congenital Inferred relationship Some 1
Congenital perforation of the nasal sinus wall Occurrence True Congenital Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Occurrence True Congenital Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of nasal bone Occurrence True Congenital Inferred relationship Some 1
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Some 1
Dicephalus dipus tribrachius Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 1
Spondylodysplasia, Luton type Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Occurrence True Congenital Inferred relationship Some 1
A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked ichthyosis with steryl-sulfatase deficiency Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Occurrence True Congenital Inferred relationship Some 3
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Occurrence True Congenital Inferred relationship Some 2

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