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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
Ectodermal dysplasia with hair-nail defect Occurrence True Congenital Inferred relationship Some 1
Spina bifida aperta Occurrence True Congenital Inferred relationship Some 3
Congenital cystic adenomatoid malformation of lung (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Occurrence True Congenital Inferred relationship Some 5
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Occurrence True Congenital Inferred relationship Some 4
Chondrodysplasia punctata, MT type Occurrence True Congenital Inferred relationship Some 1
Cervical thyroid remnant Occurrence True Congenital Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 6
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 5
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Occurrence False Congenital Inferred relationship Some 2
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 3
Pretibial epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Occurrence True Congenital Inferred relationship Some 3
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Occurrence True Congenital Inferred relationship Some 1
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Occurrence True Congenital Inferred relationship Some 2
Weber's true diffuse phlebarteriectasis Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of foot and ankle Occurrence True Congenital Inferred relationship Some 1
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Occurrence True Congenital Inferred relationship Some 1
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Occurrence True Congenital Inferred relationship Some 3
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant hypophosphataemic bone disease Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. Occurrence True Congenital Inferred relationship Some 2
Congenital rectovesical fistula Occurrence True Congenital Inferred relationship Some 1
Mitral leaflet dysplasia Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. Occurrence True Congenital Inferred relationship Some 1
Congenital wide symphysis pubis (disorder) Occurrence True Congenital Inferred relationship Some 1
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. Occurrence True Congenital Inferred relationship Some 1
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. Occurrence True Congenital Inferred relationship Some 2
Congenital neuropathy with arthrogryposis multiplex congenita Occurrence False Congenital Inferred relationship Some 1
Aniridia type 1 Occurrence True Congenital Inferred relationship Some 1
Hydrocephalus associated with congenital aqueduct stenosis Occurrence True Congenital Inferred relationship Some 1
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. Occurrence True Congenital Inferred relationship Some 1
Microdysgenesis Occurrence True Congenital Inferred relationship Some 1
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Occurrence True Congenital Inferred relationship Some 1
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Occurrence True Congenital Inferred relationship Some 2
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Occurrence True Congenital Inferred relationship Some 3
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. Occurrence True Congenital Inferred relationship Some 1
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 2
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 1
Atresia of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 1
Bilateral deficient infundibula Occurrence True Congenital Inferred relationship Some 1
Spondyloocular syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Glanular hypospadias Occurrence True Congenital Inferred relationship Some 2
Caudal regression syndrome Occurrence True Congenital Inferred relationship Some 1
Bilateral incomplete cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some 2
Bilateral incomplete cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some 1
Cystic hygroma (disorder) Occurrence True Congenital Inferred relationship Some 1
Displacement of Wharton's duct Occurrence True Congenital Inferred relationship Some 2
Displacement of Wharton's duct Occurrence True Congenital Inferred relationship Some 1
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. Occurrence True Congenital Inferred relationship Some 1
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. Occurrence True Congenital Inferred relationship Some 2
syndrome d'hypertrichose-faciès acromégaloïde Occurrence False Congenital Inferred relationship Some 1
syndrome d'hypertrichose-faciès acromégaloïde Occurrence False Congenital Inferred relationship Some 2
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Occurrence False Congenital Inferred relationship Some 5
Malformation of throat Occurrence False Congenital Inferred relationship Some 1
Craniosynostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease of rectosigmoid region (disorder) Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease of rectosigmoid region (disorder) Occurrence True Congenital Inferred relationship Some 2
Phakomatosis spilorosea Occurrence True Congenital Inferred relationship Some 1
Phakomatosis spilorosea Occurrence True Congenital Inferred relationship Some 2
Right ventricular outflow tract obstruction Occurrence False Congenital Inferred relationship Some 1
Flat birthmark Occurrence False Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectopic gastric mucosa - multiple sites (disorder) Occurrence True Congenital Inferred relationship Some 1
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. Occurrence True Congenital Inferred relationship Some 3
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. Occurrence True Congenital Inferred relationship Some 1
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. Occurrence True Congenital Inferred relationship Some 2
Complete perimaxillary faciosynostosis (disorder) Occurrence True Congenital Inferred relationship Some 1
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 4
A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. Occurrence True Congenital Inferred relationship Some 1
Acropectororenal dysplasia Occurrence False Congenital Inferred relationship Some 2
Acropectororenal dysplasia Occurrence False Congenital Inferred relationship Some 1
Muscular ventricular septal defect in inlet septum Occurrence True Congenital Inferred relationship Some 1
Diaphyseal medullary stenosis with bone malignancy (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniolacunia Occurrence True Congenital Inferred relationship Some 1
Congenital asymmetry of forehead (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. Occurrence True Congenital Inferred relationship Some 1
Torg type osteolysis Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of larynx, trachea and bronchus Occurrence True Congenital Inferred relationship Some 1
Persistent tuberculum impar Occurrence True Congenital Inferred relationship Some 1
Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 3
Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. Occurrence True Congenital Inferred relationship Some 1
Central serous retinopathy with pit of optic disc Occurrence False Congenital Inferred relationship Some 1
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. Occurrence True Congenital Inferred relationship Some 1
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Occurrence True Congenital Inferred relationship Some 2
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, type IV B Occurrence True Congenital Inferred relationship Some 1
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Occurrence True Congenital Inferred relationship Some 1
Congenital failure of eye elevation Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of radius Occurrence True Congenital Inferred relationship Some 1
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Occurrence True Congenital Inferred relationship Some 3
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Occurrence False Congenital Inferred relationship Some 4

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