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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
Right ventricular fibromuscular infundibular stenosis Occurrence False Congenital Inferred relationship Some 1
Ruvalcaba-Myhre syndrome Occurrence False Congenital Inferred relationship Some 1
hydroméningocèle crânienne congénitale Occurrence False Congenital Inferred relationship Some 2
Dextrokardie Occurrence False Congenital Inferred relationship Some 1
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Occurrence True Congenital Inferred relationship Some 2
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Occurrence True Congenital Inferred relationship Some 1
Hepatic vein to right sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Occurrence True Congenital Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 1
Fissured spine with hydrocephalus Occurrence False Congenital Inferred relationship Some 4
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 3
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 2
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 1
Thoracic hemivertebra- balanced Occurrence True Congenital Inferred relationship Some 1
Non-erythrodermic lamellar ichthyosis Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia tarda Occurrence True Congenital Inferred relationship Some 1
Polydactyly of toes Occurrence True Congenital Inferred relationship Some 1
Supernumerary liver lobe Occurrence True Congenital Inferred relationship Some 1
Robinson nail dystrophy-deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Robinson nail dystrophy-deafness syndrome Occurrence True Congenital Inferred relationship Some 2
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. Occurrence False Congenital Inferred relationship Some 1
Roselli-Gulienetti ectodermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Lhermitte-Duclos disease Occurrence True Congenital Inferred relationship Some 1
Benign congenital muscular dystrophy with finger flexion contractures Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital atresia of pulmonary valve Occurrence True Congenital Inferred relationship Some 1
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Occurrence True Congenital Inferred relationship Some 1
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Occurrence True Congenital Inferred relationship Some 3
Posterior segment vascular anomalies Occurrence False Congenital Inferred relationship Some 2
Lack of ossification of lacrimal bone Occurrence True Congenital Inferred relationship Some 2
Metaphyseal dysplasia, Braun-Tinschert type is characterized by metaphyseal undermodeling with broadening of the long bones and femora with an Erlenmeyer flask appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type I (disorder) Occurrence True Congenital Inferred relationship Some 1
Progressive pseudorheumatoid dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital posterolateral diaphragmatic hernia (disorder) Occurrence True Congenital Inferred relationship Some 2
Dandy-Walker syndrome with spina bifida Occurrence True Congenital Inferred relationship Some 2
Patent ductus venosus Occurrence True Congenital Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Occurrence False Congenital Inferred relationship Some 1
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. Occurrence True Congenital Inferred relationship Some 1
Congenital cerebral hernia Occurrence True Congenital Inferred relationship Some 2
Congenital stricture of osseous meatus of middle ear Occurrence True Congenital Inferred relationship Some 1
Congenital hypotrichia Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with left cleft lip Occurrence True Congenital Inferred relationship Some 1
Anonychia (disorder) Occurrence True Congenital Inferred relationship Some 1
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 1
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Occurrence True Congenital Inferred relationship Some 1
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Occurrence True Congenital Inferred relationship Some 2
Congenital eventration of left crus of diaphragm (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of parietal bone Occurrence True Congenital Inferred relationship Some 1
Short rib dysplasia Occurrence True Congenital Inferred relationship Some 1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 1
Berlin syndrome Occurrence True Congenital Inferred relationship Some 1
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 2
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 3
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 1
Left superior vena cava persisting to right atrium and left atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of arch of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect with characteristics of an anomalous connection of trachea with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. Occurrence True Congenital Inferred relationship Some 1
Arteriovenous-lymphatic malformation Occurrence True Congenital Inferred relationship Some 1
Predislocation status of hip at birth Occurrence False Congenital Inferred relationship Some 1
Lethal Kniest-like syndrome Occurrence True Congenital Inferred relationship Some 1
Uterus bicornis unicollis with septate vagina Occurrence True Congenital Inferred relationship Some 1
Congenital intrauterine infection-like syndrome is characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. Occurrence True Congenital Inferred relationship Some 2
Phakomatosis cesioflammea Occurrence True Congenital Inferred relationship Some 1
Phakomatosis cesioflammea 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 1
Incomplete ossification of rib Occurrence True Congenital Inferred relationship Some 1
Congenital phimosis Occurrence True Congenital Inferred relationship Some 1
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Occurrence True Congenital Inferred relationship Some 2
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Occurrence True Congenital Inferred relationship Some 1
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Occurrence True Congenital Inferred relationship Some 3
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Occurrence True Congenital Inferred relationship Some 2
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Occurrence True Congenital Inferred relationship Some 1
Right ventricle posterior to left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Bulbus cordis and cardiac septal closure anomalies Occurrence True Congenital Inferred relationship Some 1
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. Occurrence False Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. Occurrence True Congenital Inferred relationship Some 2
Thoracic hemivertebra - unbalanced Occurrence True Congenital Inferred relationship Some 1
Anodontie Occurrence False Congenital Inferred relationship Some 3
Anodontie Occurrence False Congenital Inferred relationship Some 2
Anodontie Occurrence False Congenital Inferred relationship Some 1
Irido-trabecular dysgenesis Occurrence True Congenital Inferred relationship Some 1
Albinism co-occurrent with hematologic disorder (disorder) Occurrence False Congenital Inferred relationship Some 1
Infantile fucosidosis Occurrence False Congenital Inferred relationship Some 1
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Occurrence True Congenital Inferred relationship Some 1
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Occurrence True Congenital Inferred relationship Some 3
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Occurrence True Congenital Inferred relationship Some 2
Geroderma osteodysplastica Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital alopecia Occurrence True Congenital Inferred relationship Some 1
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. Occurrence True Congenital Inferred relationship Some 1
Kniest dysplasia Occurrence True Congenital Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of arch of cervical vertebra Occurrence True Congenital Inferred relationship Some 1

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