FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Splenomegaly co-occurrent and due to storage disease Occurrence False Congenital Inferred relationship Some 1
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital dacryocele (disorder) Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular junction (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 2 (disorder) Occurrence False Congenital Inferred relationship Some 3
Deletion of part of short arm of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of short arm of chromosome 2 (disorder) Occurrence False Congenital Inferred relationship Some 3
Deletion of part of chromosome 3 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 3 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 3 (disorder) Occurrence True Congenital Inferred relationship Some 3
Deletion of part of chromosome 4 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 5 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 5 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 (disorder) Occurrence True Congenital Inferred relationship Some 3
Deletion of part of chromosome 6 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 6 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 (disorder) Occurrence True Congenital Inferred relationship Some 3
Deletion of part of short arm of chromosome 6 (disorder) Occurrence False Congenital Inferred relationship Some 2
Deletion of part of short arm of chromosome 6 (disorder) Occurrence True Congenital Inferred relationship Some 3
Deletion of part of chromosome 7 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 8 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 9 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 10 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 11 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Occurrence False Congenital Inferred relationship Some 3
Deletion of part of chromosome 13 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 14 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of short arm of chromosome 16 (disorder) Occurrence False Congenital Inferred relationship Some 3
Deletion of part of chromosome 17 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 17 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of short arm of chromosome 17 (disorder) Occurrence True Congenital Inferred relationship Some 3
Deletion of part of chromosome 18 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 19 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of long arm of chromosome 19 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of long arm of chromosome 19 (disorder) Occurrence True Congenital Inferred relationship Some 3
Deletion of short arm of chromosome 19 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of short arm of chromosome 19 (disorder) Occurrence True Congenital Inferred relationship Some 3
Deletion of part of chromosome 20 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 20 (disorder) Occurrence False Congenital Inferred relationship Some 3
Deletion of part of short arm of chromosome 20 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of short arm of chromosome 20 (disorder) Occurrence False Congenital Inferred relationship Some 3
Deletion of part of chromosome 21 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 22 (disorder) Occurrence True Congenital Inferred relationship Some 1
Uniparental disomy (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malposition of eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Dystopia canthorum (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. Occurrence False Congenital Inferred relationship Some
A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Occurrence False Congenital Inferred relationship Some
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 3
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. Occurrence False Congenital Inferred relationship Some 4
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. Occurrence False Congenital Inferred relationship Some 5
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. Occurrence False Congenital Inferred relationship Some 4
Congenital cataract ichthyosis syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cataract ichthyosis syndrome Occurrence False Congenital Inferred relationship Some 3
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. Occurrence False Congenital Inferred relationship Some 5
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. Occurrence False Congenital Inferred relationship Some 6
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Occurrence False Congenital Inferred relationship Some 4
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Occurrence False Congenital Inferred relationship Some 5
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Occurrence False Congenital Inferred relationship Some 6
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981. Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 2
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. Occurrence False Congenital Inferred relationship Some 3
A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. Occurrence True Congenital Inferred relationship Some 2
A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. Occurrence False Congenital Inferred relationship Some 3
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Occurrence False Congenital Inferred relationship Some 4
A very rare syndrome described in four siblings of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Familial infantile myasthenia Occurrence True Congenital Inferred relationship Some 1
Acetylcholine resynthesis deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital secondary hydronephrosis (disorder) Occurrence False Congenital Inferred relationship Some 2
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Occurrence False Congenital Inferred relationship Some 5
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Occurrence False Congenital Inferred relationship Some 6
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Occurrence False Congenital Inferred relationship Some 7
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. Occurrence False Congenital Inferred relationship Some
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Occurrence True Congenital Inferred relationship Some 4
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Occurrence False Congenital Inferred relationship Some 5
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Occurrence False Congenital Inferred relationship Some 6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Occurrence False Congenital Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Occurrence False Congenital Inferred relationship Some 6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Occurrence False Congenital Inferred relationship Some 7
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Occurrence False Congenital Inferred relationship Some 5
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Occurrence False Congenital Inferred relationship Some 6
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Occurrence False Congenital Inferred relationship Some 7
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Occurrence False Congenital Inferred relationship Some 8
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Occurrence False Congenital Inferred relationship Some 5
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Occurrence False Congenital Inferred relationship Some 6
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Occurrence False Congenital Inferred relationship Some 7
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. Occurrence False Congenital Inferred relationship Some 8
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Occurrence True Congenital Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Occurrence False Congenital Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Occurrence False Congenital Inferred relationship Some 6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Occurrence False Congenital Inferred relationship Some 7
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. Occurrence False Congenital Inferred relationship Some 4
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. Occurrence False Congenital Inferred relationship Some 5

Start Previous Page 235 of 344 Next End

This concept is not in any reference sets

Back to Start