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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
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. Occurrence True Congenital Inferred relationship Some 3
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. Occurrence True Congenital Inferred relationship Some 2
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. Occurrence True Congenital Inferred relationship Some 1
Cerebro-costo-mandibular syndrome Occurrence True Congenital Inferred relationship Some 1
Cerebro-costo-mandibular syndrome Occurrence True Congenital Inferred relationship Some 2
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Occurrence True Congenital Inferred relationship Some 4
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Occurrence True Congenital Inferred relationship Some 1
Myotubular myopathy with type I atrophy Occurrence True Congenital Inferred relationship Some 1
Coronary orifice abnormally high Occurrence True Congenital Inferred relationship Some 1
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 2
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 1
Congenital rectovestibular fistula Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking. Occurrence True Congenital Inferred relationship Some 1
Double eyebrow Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of centrum of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital rectocloacal fistula Occurrence True Congenital Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Occurrence False Congenital Inferred relationship Some 2
Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Occurrence True Congenital Inferred relationship Some 1
Congenital anomalies of eyelid, lacrimal system and orbit Occurrence True Congenital Inferred relationship Some 1
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 3
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 1
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 4
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 2
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. Occurrence True Congenital Inferred relationship Some 1
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. Occurrence True Congenital Inferred relationship Some 2
Congenital calculus of kidney Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. Occurrence True Congenital Inferred relationship Some 1
Thoracolumbar spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplasia of nasal septum Occurrence False Congenital Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to coronary sinus (disorder) Occurrence True Congenital Inferred relationship Some 1
Venous-lymphatic malformation Occurrence True Congenital Inferred relationship Some 1
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 4
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 3
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 2
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. Occurrence True Congenital Inferred relationship Some 2
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. Occurrence True Congenital Inferred relationship Some 3
Sclerosteosis Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia due to matrilin-3 variants and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. Occurrence True Congenital Inferred relationship Some 1
Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. Occurrence True Congenital Inferred relationship Some 1
Pulmonary venous confluence in direct proximity to left atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Pyknodysostosis Occurrence True Congenital Inferred relationship Some 1
Early onset myopathy with fatal cardiomyopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of talus Occurrence True Congenital Inferred relationship Some 1
Pericarditis secondary to Mulibrey nanism (disorder) Occurrence True Congenital Inferred relationship Some 2
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 2
Cervical rib Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with tooth-sweating defect Occurrence True Congenital Inferred relationship Some 1
syndrome d'Ehlers-Danlos type vasculaire-like Occurrence False Congenital Inferred relationship Some 2
syndrome d'Ehlers-Danlos type vasculaire-like Occurrence False Congenital Inferred relationship Some 1
Radial polydactyly Wassel 3 Occurrence False Congenital Inferred relationship Some 1
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. Occurrence True Congenital Inferred relationship Some 1
Uterus acollis Occurrence True Congenital Inferred relationship Some 1
MEDNIK-Syndrom Occurrence False Congenital Inferred relationship Some 1
MEDNIK-Syndrom Occurrence False Congenital Inferred relationship Some 2
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Occurrence True Congenital Inferred relationship Some 3
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Occurrence True Congenital Inferred relationship Some 2
Axillary freckling due to neurofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Axillary freckling due to neurofibromatosis (disorder) Occurrence False Congenital Inferred relationship Some 1
Mondini defect Occurrence True Congenital Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Occurrence True Congenital Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Occurrence True Congenital Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta, hypoplastic type with microdontia Occurrence True Congenital Inferred relationship Some 1
Trifid pelvis of kidney Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. Occurrence True Congenital Inferred relationship Some 2
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. Occurrence True Congenital Inferred relationship Some 1
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Occurrence True Congenital Inferred relationship Some 3
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Occurrence True Congenital Inferred relationship Some 2
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. Occurrence True Congenital Inferred relationship Some 5
Oesophageal atresia, stenosis and fistula Occurrence True Congenital Inferred relationship Some 1
Greenberg dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Thanatophoric dysplasia, type 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, Schmid type Occurrence True Congenital Inferred relationship Some 1
Deformity of digit of hand due to amniotic band (disorder) Occurrence True Congenital Inferred relationship Some 1
Oesophageal atresia with tracheo-oesophageal fistula Occurrence True Congenital Inferred relationship Some 2
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996. Occurrence True Congenital Inferred relationship Some 1
Craniotabes Occurrence True Congenital Inferred relationship Some 1
Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. Occurrence True Congenital Inferred relationship Some 1
Congenital absence of forearm and hand Occurrence False Congenital Inferred relationship Some 3
Congenital absence of forearm and hand Occurrence True Congenital Inferred relationship Some 2
Congenital absence of forearm and hand Occurrence True Congenital Inferred relationship Some 1
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Occurrence True Congenital Inferred relationship Some 1
Bipartite ossification of centrum of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Occurrence True Congenital Inferred relationship Some 3
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Occurrence True Congenital Inferred relationship Some 2
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Occurrence True Congenital Inferred relationship Some 1
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age. Occurrence False Congenital Inferred relationship Some 4
Ruvalcaba syndrome Occurrence True Congenital Inferred relationship Some 1
Proximal femoral focal deficiency Occurrence True Congenital Inferred relationship Some 1

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