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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
Pseudohermaphroditism Occurrence True Congenital Inferred relationship Some 1
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 2
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 4
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 3
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). Occurrence True Congenital Inferred relationship Some 2
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. Occurrence True Congenital Inferred relationship Some 2
Congenital fibrosis of inferior rectus muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Malaligned atrial septum Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Lenticonus Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of hyoid bone Occurrence True Congenital Inferred relationship Some 1
Short rib polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. Occurrence True Congenital Inferred relationship Some 1
Pseudovaginal perineoscrotal hypospadias Occurrence False Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Occurrence True Congenital Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Occurrence True Congenital Inferred relationship Some 2
Distal radioulnar synostosis Occurrence False Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Occurrence True Congenital Inferred relationship Some 2
Salla disease Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly with atrial septal defect Occurrence True Congenital Inferred relationship Some 1
A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles. Occurrence True Congenital Inferred relationship Some 1
Persistent lanugo Occurrence True Congenital Inferred relationship Some 1
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Occurrence True Congenital Inferred relationship Some 1
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Occurrence False Congenital Inferred relationship Some 2
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Occurrence False Congenital Inferred relationship Some 3
Median nasal dermoid fistula Occurrence True Congenital Inferred relationship Some 1
Intrauterine amputation of lower limb Occurrence True Congenital Inferred relationship Some 1
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Capillary fragility abnormality Occurrence True Congenital Inferred relationship Some 1
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. Occurrence True Congenital Inferred relationship Some 2
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. Occurrence True Congenital Inferred relationship Some 1
Syphilitic saddle nose Occurrence True Congenital Inferred relationship Some 1
Microhepatia Occurrence True Congenital Inferred relationship Some 1
Posterior lentiglobus Occurrence True Congenital Inferred relationship Some 1
Ichthyosis cheek eyebrow syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Ear pit syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with separate atrioventricular orifices (disorder) Occurrence True Congenital Inferred relationship Some 1
Hooded clitoris Occurrence True Congenital Inferred relationship Some 1
Central polydactyly of fingers Occurrence True Congenital Inferred relationship Some 1
Coloboma of eyelid Occurrence True Congenital Inferred relationship Some 1
chondrodysplasie ponctuée congénitale Occurrence False Congenital Inferred relationship Some 1
Capillary malformation-arteriovenous malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital tracheocele Occurrence False Congenital Inferred relationship Some 2
Fordyce spots of buccal mucosa (disorder) Occurrence False Congenital Inferred relationship Some 1
Osteodysplasia Occurrence False Congenital Inferred relationship Some 1
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. Occurrence True Congenital Inferred relationship Some 1
Malattachment of atrial septum with posterior aspect of septum primum to left (disorder) Occurrence True Congenital Inferred relationship Some 1
Sialic storage disease Occurrence True Congenital Inferred relationship Some 1
Manus vara Occurrence False Congenital Inferred relationship Some 2
Lamellar ichthyosis Occurrence True Congenital Inferred relationship Some 1
Hypohidrosis-diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder) Occurrence True Congenital Inferred relationship Some 1
fibrofolliculomes multiples familiaux Occurrence False Congenital Inferred relationship Some 1
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. Occurrence True Congenital Inferred relationship Some 1
Camptodactyly Occurrence True Congenital Inferred relationship Some 1
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. Occurrence True Congenital Inferred relationship Some 2
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. Occurrence True Congenital Inferred relationship Some 1
Odonto-onycho-dermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 1
Cerebrofacial dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital gastrointestinal-urinary tract fistula Occurrence True Congenital Inferred relationship Some 1
Vertical alopecia (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Occurrence True Congenital Inferred relationship Some 1
Hyperplasia of pancreatic islet beta cell Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 4 Occurrence False Congenital Inferred relationship Some 1
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Occurrence True Congenital Inferred relationship Some 2
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis fibular aplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of left atrioventricular valve in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of knee with genu recurvatum Occurrence True Congenital Inferred relationship Some 1
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Occurrence False Congenital Inferred relationship Some 1
Megalencephaly-capillary malformation syndrome Occurrence False Congenital Inferred relationship Some 2
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. Occurrence True Congenital Inferred relationship Some 1
Localised junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Female hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. Occurrence True Congenital Inferred relationship Some 1
Coronary sinus defect in left atrium Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. Occurrence True Congenital Inferred relationship Some 2
Hydrorhachis Occurrence False Congenital Inferred relationship Some 1
Ichthyosis hystrix Bäfverstedt type (disorder) Occurrence True Congenital Inferred relationship Some 1
Weissenbacher-Zweymuller syndrome Occurrence False Congenital Inferred relationship Some 2
angiome artérioveineux Occurrence False Congenital Inferred relationship Some 1
Constriction ring syndrome of lower limb with amputation Occurrence True Congenital Inferred relationship Some 1
Multirooted tooth with convergent roots Occurrence False Congenital Inferred relationship Some 1
Late secondary abnormalities of the central nervous system Occurrence False Congenital Inferred relationship Some 1
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Occurrence True Congenital Inferred relationship Some 1
Crowding of anterior maxillary teeth (disorder) Occurrence False Congenital Inferred relationship Some 2
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Occurrence True Congenital Inferred relationship Some 3
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Occurrence True Congenital Inferred relationship Some 2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 1

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