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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
Paravaginal cyst arising in mesonephric duct Occurrence True Congenital Inferred relationship Some 1
Pili torti-deafness syndrome Occurrence True Congenital Inferred relationship Some 1
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Occurrence True Congenital Inferred relationship Some 1
Functionally congenital single lung (disorder) Occurrence True Congenital Inferred relationship Some 1
Rothmund-Thomson syndrome Occurrence True Congenital Inferred relationship Some 1
Micromelic spondyloepimetaphyseal dysplasia Occurrence False Congenital Inferred relationship Some 3
Abnormal course of aortic arch and descending aorta (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of lacrimal bone Occurrence True Congenital Inferred relationship Some 1
Isolation of right subclavian artery (disorder) Occurrence False Congenital Inferred relationship Some 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa Occurrence True Congenital Inferred relationship Some 1
Trigonocephaly Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital absence of fallopian tube (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia - Sutcliffe type Occurrence True Congenital Inferred relationship Some 1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Occurrence True Congenital Inferred relationship Some 2
Spina bifida aperta of cervical spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Spina bifida aperta of cervical spine (disorder) Occurrence True Congenital Inferred relationship Some 3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Atrichia congenita (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrocolon Occurrence False Congenital Inferred relationship Some 1
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated. Occurrence True Congenital Inferred relationship Some 1
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. Occurrence True Congenital Inferred relationship Some 1
Congenital rhabdomyoma of heart Occurrence True Congenital Inferred relationship Some 1
Mesotaurodontism Occurrence False Congenital Inferred relationship Some 1
Total anomalous pulmonary venous return Occurrence True Congenital Inferred relationship Some 1
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Occurrence True Congenital Inferred relationship Some 2
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Occurrence False Congenital Inferred relationship Some 3
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Occurrence True Congenital Inferred relationship Some 4
Congenital diverticulosis of small intestine (disorder) Occurrence False Congenital Inferred relationship Some 1
Overriding skull bones Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary vein confluence Occurrence True Congenital Inferred relationship Some 1
Laryngeal cleft type II Occurrence True Congenital Inferred relationship Some 1
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. Occurrence True Congenital Inferred relationship Some 1
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 1
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 False Congenital Inferred relationship Some 1
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 3
Incomplete anencephaly Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of right ventricular outflow tract Occurrence True Congenital Inferred relationship Some 1
Coronal hypospadias Occurrence True Congenital Inferred relationship Some 2
Double uterus affecting pregnancy Occurrence True Congenital Inferred relationship Some 1
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. Occurrence True Congenital Inferred relationship Some 1
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Occurrence True Congenital Inferred relationship Some 1
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Occurrence True Congenital Inferred relationship Some 3
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Occurrence True Congenital Inferred relationship Some 2
derodidymis Occurrence False Congenital Inferred relationship Some 1
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). Occurrence True Congenital Inferred relationship Some 3
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). Occurrence True Congenital Inferred relationship Some 1
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). Occurrence True Congenital Inferred relationship Some 2
A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. Occurrence True Congenital Inferred relationship Some 1
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 3
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 False Congenital Inferred relationship Some 4
Dextrocardia Occurrence True Congenital Inferred relationship Some 1
Overriding left ventriculoarterial valve Occurrence False Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. Occurrence True Congenital Inferred relationship Some 2
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Occurrence True Congenital Inferred relationship Some 2
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Occurrence False Congenital Inferred relationship Some 1
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Occurrence True Congenital Inferred relationship Some 2
Anencephalus Occurrence True Congenital Inferred relationship Some 1
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Occurrence True Congenital Inferred relationship Some 1
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Occurrence True Congenital Inferred relationship Some 6
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Occurrence True Congenital Inferred relationship Some 4
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. Occurrence True Congenital Inferred relationship Some 2
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. Occurrence True Congenital Inferred relationship Some 2
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. Occurrence True Congenital Inferred relationship Some 1
Doubling of uterus with doubling of cervix and vagina with obstruction Occurrence True Congenital Inferred relationship Some 1
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. Occurrence True Congenital Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital vertical mandibular hypoplasia Occurrence True Congenital Inferred relationship Some 1
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 2
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 1
pseudochondroplasie Occurrence False Congenital Inferred relationship Some 1
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Occurrence False Congenital Inferred relationship Some 1
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Occurrence False Congenital Inferred relationship Some 2
Manus plana Occurrence True Congenital Inferred relationship Some 1
Persistent left posterior cardinal vein Occurrence False Congenital Inferred relationship Some 2
Persistent left posterior cardinal vein Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 7 Occurrence False Congenital Inferred relationship Some 1
Congenital abnormality of iris and ciliary body (disorder) Occurrence True Congenital Inferred relationship Some 1
Increased anogenital distance (disorder) Occurrence True Congenital Inferred relationship Some 1
Megacalycosis Occurrence False Congenital Inferred relationship Some 1
Incomplete ossification of mandible Occurrence True Congenital Inferred relationship Some 1
Brachygnathism Occurrence True Congenital Inferred relationship Some 1
Congenital cataract ichthyosis syndrome Occurrence True Congenital Inferred relationship Some 1
Neurocutaneous syndrome Occurrence True Congenital Inferred relationship Some 1
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. Occurrence True Congenital Inferred relationship Some 1
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 2
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 1
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 4
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 3
Spina bifida without hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Congenital hypertrichosis lanuginosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital cervicoaural fistula Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous fistula stenosis Occurrence True Congenital Inferred relationship Some 1

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