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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
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. Occurrence True Congenital Inferred relationship Some 1
Mitral valve dysplasia Occurrence True Congenital Inferred relationship Some 1
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Occurrence True Congenital Inferred relationship Some 2
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Occurrence True Congenital Inferred relationship Some 1
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Occurrence True Congenital Inferred relationship Some 2
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 1
Congenital short quadriceps Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of sternebra Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to anterolateral muscle band (disorder) Occurrence False 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 1
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Occurrence True Congenital Inferred relationship Some 1
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia. Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of vagina affecting pregnancy Occurrence True Congenital Inferred relationship Some 1
Amyoplasie, kongenitale Occurrence False Congenital Inferred relationship Some 1
Thoracic insufficiency syndrome is a complex condition involving congenital chest wall deformities that affect normal breathing and lung growth. It results from serious defects affecting the ribs or chest wall, such as severe scoliosis or rib fusion, and various hypoplastic thorax syndromes such as Jeune Syndrome and Jarcho-Levin syndrome. Occurrence True Congenital Inferred relationship Some 1
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Occurrence True Congenital Inferred relationship Some 1
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Occurrence True Congenital Inferred relationship Some 3
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Occurrence True Congenital Inferred relationship Some 1
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Occurrence True Congenital Inferred relationship Some 2
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Occurrence True Congenital Inferred relationship Some 1
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Occurrence True Congenital Inferred relationship Some 2
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Occurrence True Congenital Inferred relationship Some 2
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Occurrence True Congenital Inferred relationship Some 1
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Occurrence True Congenital Inferred relationship Some 2
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. Occurrence True Congenital Inferred relationship Some 2
Multiple epiphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Occurrence True Congenital Inferred relationship Some 2
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Occurrence True Congenital Inferred relationship Some 1
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Occurrence True Congenital Inferred relationship Some 3
Distichiasis Occurrence False Congenital Inferred relationship Some 1
Capillary-venous malformation Occurrence True Congenital Inferred relationship Some 1
Patent ductus arteriosus with right-to-left shunt (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Occurrence False Congenital Inferred relationship Some 3
A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly. Occurrence True Congenital Inferred relationship Some 1
Congenital corneal opacity interfering with vision Occurrence True Congenital Inferred relationship Some 1
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. Occurrence True Congenital Inferred relationship Some 1
Double artery Occurrence True Congenital Inferred relationship Some 1
Congenital asymmetry of jaw (disorder) Occurrence True Congenital Inferred relationship Some 1
Opitz-Frias syndrome Occurrence True Congenital Inferred relationship Some 2
Kniest-Stickler dysplasia Occurrence True Congenital Inferred relationship Some 1
Supradiaphragmatic total anomalous pulmonary venous return Occurrence True Congenital Inferred relationship Some 1
Patent vitelline duct (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrome dento-oculocutané Occurrence False Congenital Inferred relationship Some 1
Multiple dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. Occurrence True Congenital Inferred relationship Some 2
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of duodenum (disorder) Occurrence False Congenital Inferred relationship Some 1
Polydactyly of fingers Occurrence True Congenital Inferred relationship Some 1
Acephalocheiria Occurrence True Congenital Inferred relationship Some 3
Acephalocheiria Occurrence True Congenital Inferred relationship Some 2
Acephalocheiria Occurrence True Congenital Inferred relationship Some 1
Congenital fissure of epiglottis Occurrence True Congenital Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder) Occurrence True Congenital Inferred relationship Some 1
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 2
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 3
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 1
Radial aplasia-thrombocytopenia syndrome Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage to coronary sinus Occurrence True Congenital Inferred relationship Some 2
Pulmonary hypoplasia associated with short gestation Occurrence True Congenital Inferred relationship Some 1
Straddling mitral valve Occurrence True Congenital Inferred relationship Some 1
Thoracic hydromeningocele Occurrence False Congenital Inferred relationship Some 1
Thoracic hydromeningocele Occurrence False Congenital Inferred relationship Some 2
Oligomeganephronic hypoplasia of kidney Occurrence True Congenital Inferred relationship Some 2
Epstein's pearl of palate (disorder) Occurrence True Congenital Inferred relationship Some 1
Microdactyly Occurrence True Congenital Inferred relationship Some 1
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Occurrence True Congenital Inferred relationship Some 1
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Occurrence True Congenital Inferred relationship Some 2
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Occurrence True Congenital Inferred relationship Some 3
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include 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 features which may occur in both subtypes 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. Gene-specific features, with variable presentation, are additionally observed in each subtype. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. Occurrence True Congenital Inferred relationship Some 2
Macropalpebral fissure Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Occurrence True Congenital Inferred relationship Some 1
Saldino-Mainzer dysplasia Occurrence True Congenital Inferred relationship Some 2
Fetal cystic hygroma (disorder) Occurrence False Congenital Inferred relationship Some 2
Adult GM1 gangliosidosis Occurrence False Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to prolapsed arterial valve (disorder) Occurrence False Congenital Inferred relationship Some 1
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. Occurrence True Congenital Inferred relationship Some 1
Cutis laxa, recessive, type II Occurrence True Congenital Inferred relationship Some 1
A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia. Occurrence True Congenital Inferred relationship Some 1
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Spina bifida aperta of lumbar spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Spina bifida aperta of lumbar spine (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence True Congenital Inferred relationship Some 2
Symmetrical dyschromatosis of extremities (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 1
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 3
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 2
Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) Occurrence True Congenital Inferred relationship Some 2
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) Occurrence True Congenital Inferred relationship Some 1
Cervical spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 2
Scypho-patellar dysplasia (disorder) Occurrence False Congenital Inferred relationship Some 2
Scypho-patellar dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. Occurrence True Congenital Inferred relationship Some 3

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