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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
Incomplete ossification of arch of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Oculocutaneous albinoidism Occurrence False Congenital Inferred relationship Some 1
Familial intestinal malrotation Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type III (disorder) Occurrence True Congenital Inferred relationship Some 1
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. Occurrence True Congenital Inferred relationship Some 2
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. Occurrence True Congenital Inferred relationship Some 1
Bilateral secondary renal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral secondary renal dysplasia (disorder) Occurrence False Congenital Inferred relationship Some 1
Restrictive interatrial communication with obligatory shunt (disorder) Occurrence True Congenital Inferred relationship Some 1
Closed ductus venosus Occurrence True Congenital Inferred relationship Some 1
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence True Congenital Inferred relationship Some 1
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. Occurrence True Congenital Inferred relationship Some 1
Porokeratosis of Mibelli, plaque type Occurrence False Congenital Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. Occurrence True Congenital Inferred relationship Some 1
Scimitar syndrome Occurrence True Congenital Inferred relationship Some 1
Mannosidosis Occurrence True Congenital Inferred relationship Some 1
Condition where the ulna projects more distally relative to the radius. Occurrence True Congenital Inferred relationship Some 1
Congenital coxa vara Occurrence True Congenital Inferred relationship Some 1
Stenosis of systemic to pulmonary artery collateral artery Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Occurrence False Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 4
Congenital junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Dysostosis multiplex group Occurrence True Congenital Inferred relationship Some 1
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of premaxilla Occurrence True Congenital Inferred relationship Some 1
Pseudo-polycoria Occurrence True Congenital Inferred relationship Some 1
Dacryocystitis and osteopoikilosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Dacryocystitis and osteopoikilosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, perinatal lethal Occurrence True Congenital Inferred relationship Some 1
Multiple congenital anomalies of fetus Occurrence False Congenital Inferred relationship Some 1
Progressive diaphyseal dysplasia Occurrence False Congenital Inferred relationship Some 1
Osler hemorrhagic telangiectasia syndrome Occurrence True Congenital Inferred relationship Some 1
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. Occurrence True Congenital Inferred relationship Some 1
Congenital coxa valga Occurrence True Congenital Inferred relationship Some 1
Achondroplasia Occurrence True Congenital Inferred relationship Some 2
Achondroplasia Occurrence False Congenital Inferred relationship Some 1
imperforation de la valve pulmonaire Occurrence False Congenital Inferred relationship Some 1
Pulmonary venous confluence in horizontal orientation (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency, virilization of external genitalia in females, and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome, or mildly affected men with gonadal insufficiency. Occurrence True Congenital Inferred relationship Some 1
Right superior vena cava persisting to coronary sinus and then to right sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Right superior vena cava persisting to coronary sinus and then to right sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 2
Epidermolysis bullosa simplex with neuromuscular disease Occurrence False Congenital Inferred relationship Some 1
Otomandibular dysostosis Occurrence True Congenital Inferred relationship Some 2
Glycogenosis with glucoaminophosphaturia Occurrence True Congenital Inferred relationship Some 1
Fallot's trilogy Occurrence True Congenital Inferred relationship Some 3
Fallot's trilogy Occurrence True Congenital Inferred relationship Some 1
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. Occurrence True Congenital Inferred relationship Some 1
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. Occurrence True Congenital Inferred relationship Some 2
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Occurrence True Congenital Inferred relationship Some 3
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Occurrence True Congenital Inferred relationship Some 2
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, Spahr type Occurrence True Congenital Inferred relationship Some 1
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. Occurrence True Congenital Inferred relationship Some 1
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. Occurrence True Congenital Inferred relationship Some 2
Hepatic vein to left atrium and right atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Hepatic vein to left atrium and right atrium (disorder) Occurrence True Congenital Inferred relationship Some 2
Lumbar hemivertebra - balanced Occurrence True Congenital Inferred relationship Some 1
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Occurrence True Congenital Inferred relationship Some 4
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Occurrence True Congenital Inferred relationship Some 1
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Occurrence True Congenital Inferred relationship Some 2
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Occurrence True Congenital Inferred relationship Some 3
Craniometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant lamellar ichthyosis Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Occurrence True Congenital Inferred relationship Some 1
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. Occurrence True Congenital Inferred relationship Some 1
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. Occurrence True Congenital Inferred relationship Some 2
Dysplasia with defective mineralization Occurrence True Congenital Inferred relationship Some 1
Triplex ureter Occurrence True Congenital Inferred relationship Some 1
érythrokératodermie, trichorrhexie noueuse et dermatite atopique Occurrence False Congenital Inferred relationship Some 1
Congenital obstructive defect of renal pelvis Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of arch of lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital leg length discrepancy (disorder) Occurrence True Congenital Inferred relationship Some 1
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 2
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 5
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 4
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 1
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 3
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. Occurrence True Congenital Inferred relationship Some 5
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. Occurrence True Congenital Inferred relationship Some 4
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Occurrence True Congenital Inferred relationship Some 3
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Occurrence True Congenital Inferred relationship Some 2
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). Occurrence True Congenital Inferred relationship Some 2
Arteriovenous malformation of large intestine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of retina Occurrence False Congenital Inferred relationship Some 1
Bipartite ossification of centrum of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
Encephalo-ophthalmic dysplasia Occurrence False Congenital Inferred relationship Some 1
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Occurrence True Congenital Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Occurrence True Congenital Inferred relationship Some 1
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 2
Frontal encephalocele Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Occurrence True Congenital Inferred relationship Some 2
Lutembacher's syndrome Occurrence True Congenital Inferred relationship Some 1
Lutembacher's syndrome Occurrence True Congenital Inferred relationship Some 2

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