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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Occurrence True Congenital Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Occurrence True Congenital Inferred relationship Some 4
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Occurrence True Congenital Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Occurrence True Congenital Inferred relationship Some 3
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Occurrence True Congenital Inferred relationship Some 2
A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Occurrence True Congenital Inferred relationship Some 1
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. Occurrence True Congenital Inferred relationship Some 3
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. Occurrence True Congenital Inferred relationship Some 2
Brachyolmia Occurrence True Congenital Inferred relationship Some 1
Trichodental syndrome Occurrence True Congenital Inferred relationship Some 1
Left renal agenesis co-occurrent with right renal hypoplasia Occurrence True Congenital Inferred relationship Some 1
Generalized junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Extralobar bronchopulmonary sequestration Occurrence True Congenital Inferred relationship Some 1
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 1
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 4
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 2
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 3
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of small intestine (disorder) Occurrence True Congenital Inferred relationship Some 1
Faun tail syndrome Occurrence False Congenital Inferred relationship Some 2
Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated. Occurrence True Congenital Inferred relationship Some 1
Neurofibromatosis type 1 Occurrence True Congenital Inferred relationship Some 2
Inherited arthrogryposis Occurrence True Congenital Inferred relationship Some 1
Kyphomelic dysplasia Occurrence True Congenital Inferred relationship Some 1
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) Occurrence True Congenital Inferred relationship Some 1
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. Occurrence True Congenital Inferred relationship Some 1
Penile shaft hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. Occurrence True Congenital Inferred relationship Some 1
Cleft palate with left cleft lip Occurrence True Congenital Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Occurrence True Congenital Inferred relationship Some 2
Bipartite ossification of centrum of sacral vertebra Occurrence True Congenital Inferred relationship Some 1
Retinal arteriovenous shunt Occurrence True Congenital Inferred relationship Some 1
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Occurrence True Congenital Inferred relationship Some 1
Adams-Oliver syndrome Occurrence True Congenital Inferred relationship Some 1
Systemic to coronary collateral artery Occurrence True Congenital Inferred relationship Some 2
Congenital spinal meningocele Occurrence True Congenital Inferred relationship Some 1
Congenital spinal meningocele Occurrence True Congenital Inferred relationship Some 2
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. Occurrence True Congenital Inferred relationship Some 1
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. Occurrence True Congenital Inferred relationship Some 2
Osteopathia striata with cranial sclerosis Occurrence True Congenital Inferred relationship Some 1
Dual coronary orifice Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Porokeratosis of Mibelli, linear unilateral type Occurrence False Congenital Inferred relationship Some 1
Cutis laxa, autosomal recessive Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982. Occurrence True Congenital Inferred relationship Some 1
Kirman syndrome Occurrence True Congenital Inferred relationship Some 1
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. Occurrence True Congenital Inferred relationship Some 3
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. Occurrence True Congenital Inferred relationship Some 2
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterised by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Occurrence True Congenital Inferred relationship Some 1
Persistent cloaca (disorder) Occurrence True Congenital Inferred relationship Some 2
Persistent cloaca (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of esophagus with tracheo-esophageal fistula Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of clavicle Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of ovaries and fallopian tubes Occurrence True Congenital Inferred relationship Some 2
Congenital malformation of ovaries and fallopian tubes Occurrence True Congenital Inferred relationship Some 1
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. Occurrence True Congenital Inferred relationship Some 3
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. Occurrence True Congenital Inferred relationship Some 2
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. Occurrence True Congenital Inferred relationship Some 1
Patent urachus (disorder) Occurrence True Congenital Inferred relationship Some 1
Bent bone dysplasia group Occurrence True Congenital Inferred relationship Some 1
Polysomia (disorder) Occurrence True Congenital Inferred relationship Some 1
An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible. Occurrence False Congenital Inferred relationship Some 1
Anonychia with bizarre flexural pigmentation Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Occurrence True Congenital Inferred relationship Some 2
Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall (disorder) Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel with aneurysm of intracardiac septal wall and aneurysm of extracardiac aortic wall (disorder) Occurrence True Congenital Inferred relationship Some 2
Subpulmonary infundibulum Occurrence True Congenital Inferred relationship Some 1
Oculodentodigital syndrome Occurrence True Congenital Inferred relationship Some 3
Acephalogaster Occurrence True Congenital Inferred relationship Some 1
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy. Occurrence True Congenital Inferred relationship Some 1
Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Tuberous sclerosis syndrome Occurrence True Congenital Inferred relationship Some 1
Hydromyelocele with hydrocephalus Occurrence False Congenital Inferred relationship Some 3
Congenital extrahepatic portal-systemic shunt Occurrence True Congenital Inferred relationship Some 1
Midline cervical cleft (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Occurrence True Congenital Inferred relationship Some 2
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. Occurrence True Congenital Inferred relationship Some 1
Osseous syndactyly lesser toes Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum. Occurrence True Congenital Inferred relationship Some 1
Ectopic pancreas in duodenum Occurrence True Congenital Inferred relationship Some 1
Crowding of anterior mandibular teeth Occurrence False Congenital Inferred relationship Some 2
Microphakia Occurrence True Congenital Inferred relationship Some 1
Constriction ring of upper limb with lymphedema Occurrence True Congenital Inferred relationship Some 1
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Occurrence True Congenital Inferred relationship Some 1
Small intestine atresia and stenosis Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of ulna Occurrence True Congenital Inferred relationship Some 1
Septoparietal trabeculations Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Occurrence True Congenital Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with nail defect Occurrence True Congenital Inferred relationship Some 1
Congenital koilonychia Occurrence True Congenital Inferred relationship Some 1
Iniencephaly Occurrence True Congenital Inferred relationship Some 2
Ear auricle and external auditory canal absent Occurrence True Congenital Inferred relationship Some 1
Penile mid-shaft hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1

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