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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
Dolichocolon Occurrence True Congenital Inferred relationship Some 1
Triangular alopecia (disorder) Occurrence True Congenital Inferred relationship Some 1
Defect of skull ossification Occurrence True Congenital Inferred relationship Some 1
Accessory sternebral ossification site Occurrence True Congenital Inferred relationship Some 2
Accessory sternebral ossification site Occurrence True Congenital Inferred relationship Some 1
Uhl's disease Occurrence True Congenital Inferred relationship Some 1
Uterus bicameratus vetularum Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 1
Osteochondrodysplasia with osteopetrosis Occurrence True Congenital Inferred relationship Some 1
Spherophakia Occurrence True Congenital Inferred relationship Some 1
Beckwith-Wiedemann syndrome Occurrence True Congenital Inferred relationship Some 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Occurrence True Congenital Inferred relationship Some 1
A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Occurrence True Congenital Inferred relationship Some 1
Frontometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 2
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. Occurrence True Congenital Inferred relationship Some 1
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. Occurrence True Congenital Inferred relationship Some 1
Taurodontism Occurrence False Congenital Inferred relationship Some 1
Congenital retinal aneurysm (disorder) Occurrence True Congenital Inferred relationship Some 1
Dyssegmental dysplasia with glaucoma syndrome Occurrence False Congenital Inferred relationship Some 2
Dyssegmental dysplasia with glaucoma syndrome Occurrence False Congenital Inferred relationship Some 1
Atrioventricular septal defect with common atrioventricular orifice (disorder) Occurrence True Congenital Inferred relationship Some 1
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Occurrence True Congenital Inferred relationship Some 1
Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. Occurrence True Congenital Inferred relationship Some 1
Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. Occurrence True Congenital Inferred relationship Some 2
cheiro-spondylo-enchondromatose Occurrence False Congenital Inferred relationship Some 1
Andersen Tawil syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. Occurrence True Congenital Inferred relationship Some 4
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. Occurrence True Congenital Inferred relationship Some 2
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. Occurrence True Congenital Inferred relationship Some 3
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. Occurrence True Congenital Inferred relationship Some 1
Double outlet right atrium Occurrence True Congenital Inferred relationship Some 1
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. Occurrence True Congenital Inferred relationship Some 3
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. Occurrence True Congenital Inferred relationship Some 1
Osteoglophonic dysplasia Occurrence True Congenital Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital pulmonary lymphatic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis, type IB Occurrence True Congenital Inferred relationship Some 1
Hepatic vein to coronary sinus (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of metacarpal bone Occurrence True Congenital Inferred relationship Some 1
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Occurrence True Congenital Inferred relationship Some 2
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. Occurrence True Congenital Inferred relationship Some 3
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 3
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 1
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 2
Spondylodysplasia, San Diego type Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 1
Dicephalus dipus tetrabrachius Occurrence True Congenital Inferred relationship Some 1
Odontotrichomelic syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Penile hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. Occurrence True Congenital Inferred relationship Some 2
A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. Occurrence True Congenital Inferred relationship Some 1
Riedel's lobe of liver Occurrence True Congenital Inferred relationship Some 1
Yunis-Varon dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Anodontia Occurrence True Congenital Inferred relationship Some 1
Neuroectodermal endocrine syndrome Occurrence False Congenital Inferred relationship Some 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of entire left lung (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital eventration of diaphragm Occurrence True Congenital Inferred relationship Some 1
Spondyloenchondrodysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital coronary artery fistula to right atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Suprabasal epidermolysis bullosa simplex (disorder) Occurrence True Congenital Inferred relationship Some 1
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. Occurrence True Congenital Inferred relationship Some 1
Lumbar hemivertebra Occurrence True Congenital Inferred relationship Some 1
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 3
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Laryngeal cleft type IV Occurrence True Congenital Inferred relationship Some 1
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Occurrence False Congenital Inferred relationship Some 1
Western type of congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 1
Congenital absence of auricle with atresia of auditory canal Occurrence True Congenital Inferred relationship Some 1
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Occurrence True Congenital Inferred relationship Some 1
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. Occurrence True Congenital Inferred relationship Some 1
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. Occurrence True Congenital Inferred relationship Some 2
Dentin dysplasia, type II Occurrence True Congenital Inferred relationship Some 1
Abnormal palmar creases Occurrence True Congenital Inferred relationship Some 1
Osteoporosis with pseudoglioma Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Occurrence True Congenital Inferred relationship Some 3
Congenital bronchiectasis Occurrence True Congenital Inferred relationship Some 1
Discontinuous rib Occurrence True Congenital Inferred relationship Some 1
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Occurrence True Congenital Inferred relationship Some 1
Right ventricle inferior to left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital scar Occurrence True Congenital Inferred relationship Some 1
Omphalocele with gangrene Occurrence True Congenital Inferred relationship Some 1
Acromegaloid facial appearance syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. Occurrence True Congenital Inferred relationship Some 1
Ash leaf spot, tuberous sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of fourth and fifth toes Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Occurrence True Congenital Inferred relationship Some 3
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Occurrence True Congenital Inferred relationship Some 2
Congenital pectus carinatum Occurrence True Congenital Inferred relationship Some 1
Infantile cortical hyperostosis (disorder) Occurrence True Congenital Inferred relationship Some 1

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