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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
Proximal femoral focal deficiency Occurrence True Congenital Inferred relationship Some 1
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Occurrence True Congenital Inferred relationship Some 3
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Occurrence True Congenital Inferred relationship Some 2
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with aortic dominance (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Occurrence True Congenital Inferred relationship Some 1
Triplication of appendix Occurrence True Congenital Inferred relationship Some 1
syndrome de dyschondrostéose - néphropathie Occurrence False Congenital Inferred relationship Some 1
syndrome de dyschondrostéose - néphropathie Occurrence False Congenital Inferred relationship Some 2
Manus extensa Occurrence False Congenital Inferred relationship Some 2
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Occurrence True Congenital Inferred relationship Some 2
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Occurrence True Congenital Inferred relationship Some 1
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Occurrence True Congenital Inferred relationship Some 3
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Occurrence True Congenital Inferred relationship Some 1
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Aglossia-adactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Double mitral valve Occurrence True Congenital Inferred relationship Some 1
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Occurrence True Congenital Inferred relationship Some 3
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Occurrence False Congenital Inferred relationship Some 2
Incomplete ossification of supraoccipital bone Occurrence True Congenital Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature Occurrence True Congenital Inferred relationship Some 1
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common. Occurrence True Congenital Inferred relationship Some 1
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common. Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of centrum of lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
Pre-eruptive color change of tooth Occurrence False Congenital Inferred relationship Some 1
Mesomelic dysplasia Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 3
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Occurrence True Congenital Inferred relationship Some 1
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Occurrence False Congenital Inferred relationship Some 1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Junctional epidermolysis bullosa gravis of Herlitz (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. Occurrence True Congenital Inferred relationship Some 2
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. Occurrence True Congenital Inferred relationship Some 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. Occurrence True Congenital Inferred relationship Some 3
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. Occurrence True Congenital Inferred relationship Some 1
Roger's disease Occurrence True Congenital Inferred relationship Some 1
A rare lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description in the literature since 1988. Occurrence True Congenital Inferred relationship Some 1
Thrombocytopathy, asplenia and miosis (disorder) Occurrence False Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. Occurrence True Congenital Inferred relationship Some 1
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. Occurrence True Congenital Inferred relationship Some 1
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. Occurrence True Congenital Inferred relationship Some 1
Congenital postural lordosis Occurrence False Congenital Inferred relationship Some 1
Congenital hypoplasia of cardiac ventricle Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect - ventricular component under inferior bridging leaflet Occurrence True Congenital Inferred relationship Some 1
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Occurrence True Congenital Inferred relationship Some 1
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Occurrence True Congenital Inferred relationship Some 2
Persisting fifth aortic arch with atresia of fourth arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital fistula between uterus and urinary tract Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Occurrence False Congenital Inferred relationship Some 2
Congenital chorioretinal degeneration Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of tarsal bone Occurrence True Congenital Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Occurrence True Congenital Inferred relationship Some 1
Craniodiaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis, type II Occurrence True Congenital Inferred relationship Some 1
Grebe syndrome Occurrence True Congenital Inferred relationship Some 1
Vitelline duct polyp (disorder) Occurrence True Congenital Inferred relationship Some 1
Sandman-Andra syndrome Occurrence True Congenital Inferred relationship Some 1
Rolland-Debuqois syndrome Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of uterus and cervix Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Occurrence True Congenital Inferred relationship Some 3
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Occurrence True Congenital Inferred relationship Some 2
Supernumerary fused sternebra Occurrence True Congenital Inferred relationship Some 1
Complete bilateral cleft palate Occurrence True Congenital Inferred relationship Some 1
Complete bilateral cleft palate Occurrence True Congenital Inferred relationship Some 2
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Occurrence False Congenital Inferred relationship Some 2
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Occurrence True Congenital Inferred relationship Some 1
Uterus subseptus Occurrence True Congenital Inferred relationship Some 1
Inverse junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Multiple café-au-lait macules due to neurofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple café-au-lait macules due to neurofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Tracheal origin of right upper lobe bronchus (disorder) Occurrence True Congenital Inferred relationship Some 1
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Occurrence True Congenital Inferred relationship Some 2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Occurrence True Congenital Inferred relationship Some 3
Uterus cordiformis Occurrence True Congenital Inferred relationship Some 1
Kartagener syndrome Occurrence True Congenital Inferred relationship Some 2
Bilateral renal dysplasia Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. Occurrence True Congenital Inferred relationship Some 1
Complete situs inversus with dextrocardia Occurrence True Congenital Inferred relationship Some 1
Thanatophoric dysplasia, type 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pericardial defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Dysplasias with significant membranous bone involvement Occurrence True Congenital Inferred relationship Some 1
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Occurrence True Congenital Inferred relationship Some 1
Branchial cleft, cyst or fistula; preauricular sinus Occurrence False Congenital Inferred relationship Some 1
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Occurrence True Congenital Inferred relationship Some 1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary artery conduit Occurrence True Congenital Inferred relationship Some 1
Right renal agenesis co-occurrent with left renal hypoplasia Occurrence True Congenital Inferred relationship Some 1
Smith-McCort dysplasia (SMC) is a rare spondyloepimetaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. Occurrence True Congenital Inferred relationship Some 1
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Occurrence True Congenital Inferred relationship Some 2
Cleft soft palate with right cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1

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