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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 congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 3
Multiple anterior segment anomalies Occurrence True Congenital Inferred relationship Some 1
Atelosteogenesis type 2 Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect - ventricular component Occurrence True Congenital Inferred relationship Some 1
Congenital prolapse of urethra Occurrence True Congenital Inferred relationship Some 1
Bertolotti's syndrome Occurrence True Congenital Inferred relationship Some 1
Neonatal intestinal perforation co-occurrent and due to intestinal atresia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 5 (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypospadias and epispadias Occurrence False Congenital Inferred relationship Some 1
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Occurrence True Congenital Inferred relationship Some 1
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Occurrence True Congenital Inferred relationship Some 2
Dominant dystrophic epidermolysis bullosa, albopapular type Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of centrum of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy Occurrence False Congenital Inferred relationship Some 1
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Occurrence True Congenital Inferred relationship Some 1
Greither type of ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Isolation of left common carotid artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Dermatofibrosis lenticularis disseminata Occurrence True Congenital Inferred relationship Some 2
Congenital hyperplasia of sebaceous glands of lip Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 2
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Occurrence True Congenital Inferred relationship Some 1
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Occurrence True Congenital Inferred relationship Some 2
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Occurrence True Congenital Inferred relationship Some 4
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Occurrence True Congenital Inferred relationship Some 5
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Occurrence True Congenital Inferred relationship Some 3
Erythrodermic lamellar ichthyosis Occurrence True Congenital Inferred relationship Some 1
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence True Congenital Inferred relationship Some 1
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Occurrence True Congenital Inferred relationship Some 2
Myelocele with hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 5
Myelocele with hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 2
Osteochondrodysplasia Occurrence False Congenital Inferred relationship Some 1
Congenital portal-systemic shunt Occurrence True Congenital Inferred relationship Some 1
Obstruction of right ventricular outflow tract due to aortico-left ventricular tunnel (disorder) Occurrence False Congenital Inferred relationship Some 1
Congenital hypoplasia of cerebrum Occurrence True Congenital Inferred relationship Some 1
Constricting band of extremity (disorder) Occurrence True Congenital Inferred relationship Some 1
Superior to inferior ventricular relationship (disorder) Occurrence True Congenital Inferred relationship Some 1
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Occurrence True Congenital Inferred relationship Some 2
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Occurrence True Congenital Inferred relationship Some 1
Talon cusp Occurrence False Congenital Inferred relationship Some 1
Osseous syndactyly of toes first web space Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of tympanic anulus Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. Occurrence True Congenital Inferred relationship Some 2
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. Occurrence True Congenital Inferred relationship Some 1
Holoanencephaly (disorder) Occurrence True Congenital Inferred relationship Some 1
Sacral hemivertebra Occurrence True Congenital Inferred relationship Some 1
Bipartite ossification of sternebra Occurrence True Congenital Inferred relationship Some 1
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right patent arterial duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum (disorder) Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive ocular albinism Occurrence True Congenital Inferred relationship Some 1
Accessory ossification center Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder) Occurrence True Congenital Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 3
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 3
Sacral spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 4
Infracardiac location of anomalous pulmonary venous connection with two descending veins (disorder) Occurrence True Congenital Inferred relationship Some 1
Posterior lenticonus Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Occurrence False Congenital Inferred relationship Some 2
Congenital hernia of foramen of Morgagni Occurrence True Congenital Inferred relationship Some 1
Congenital hernia of foramen of Morgagni Occurrence True Congenital Inferred relationship Some 2
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by diaphragmatic hernia, lung hypoplasia, ossification defect of the skull, and severe limb hypoplasia. Other clinical features may include, syndactyly, clinodactyly, extra spleen, absence of the femur or pelvic bone, partial intestinal malrotation, omphalocele and testicular atrophy. Occurrence True Congenital Inferred relationship Some 1
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Occurrence True Congenital Inferred relationship Some 4
Localized macrodontia Occurrence False Congenital Inferred relationship Some 1
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Ocular albinism Occurrence True Congenital Inferred relationship Some 1
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Occurrence True Congenital Inferred relationship Some 1
Pachyonychia congenita type III of Schafer-Brunauer (disorder) Occurrence True Congenital Inferred relationship Some 1
Ocular albinism-lentigines-deafness syndrome Occurrence False 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 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 3
Congenital venous malformation of skin (disorder) Occurrence True Congenital Inferred relationship Some 1
Ocular albinism, type I Occurrence True Congenital Inferred relationship Some 1
Fetal genitourinary abnormality (disorder) Occurrence False Congenital Inferred relationship Some 1
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. Occurrence True Congenital Inferred relationship Some 2
Vascular ring with left aortic arch to right descending aorta and right arterial ligament (disorder) Occurrence True Congenital Inferred relationship Some 2
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Occurrence False Congenital Inferred relationship Some 1
Albinism co-occurrent with hematologic disorder (disorder) Occurrence True Congenital Inferred relationship Some 2
Aland eye disease and ocular albinism Occurrence True Congenital Inferred relationship Some 1
Raised birthmark Occurrence True Congenital Inferred relationship Some 1
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 5
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Occurrence True Congenital Inferred relationship Some 1
Pachyonychia congenita type II of Jackson-Lawler (disorder) Occurrence True Congenital Inferred relationship Some 1
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 True Congenital Inferred relationship Some 2
Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. Occurrence True Congenital Inferred relationship Some 1
Nasofrontal encephalocele Occurrence True Congenital Inferred relationship Some 1
Nasofrontal encephalocele Occurrence False Congenital Inferred relationship Some 3
Hydrencephalomeningocele Occurrence False Congenital Inferred relationship Some 1
Hydrencephalomeningocele Occurrence False Congenital Inferred relationship Some 2
Nasopharyngeal encephalocele Occurrence True Congenital Inferred relationship Some 1
Nasopharyngeal encephalocele Occurrence False Congenital Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Occurrence True Congenital Inferred relationship Some 3
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977. Occurrence True Congenital Inferred relationship Some 2
Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and retrotracheal right patent arterial duct (disorder) Occurrence True Congenital Inferred relationship Some 1

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