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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Oligodontia and cancer predisposition syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oligodontia and cancer predisposition syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Congenital spinal hydromeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Congenital spinal hydromeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Congenital spinal hydromeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 4
9q31.1q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
9q31.1q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
9q31.1q31.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Hydromeningocele - cranial Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Congenital abnormality of cardiac ventricle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital spade-like hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital bowing of femur Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Rhinocephaly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Rhinocephaly Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
13q12.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
13q12.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
13q12.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
14q24.1q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
14q24.1q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
14q24.1q24.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Epidermolysis bullosa simplex due to exophilin 5 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Epidermolysis bullosa simplex due to BP230 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hypoplastic left heart syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Turner's tooth Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ocular albinism with congenital sensorineural deafness Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Ocular albinism with congenital sensorineural deafness Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Ocular albinism with congenital sensorineural deafness Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital chronic diarrhea with protein-losing enteropathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of skull Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of ischium Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of vertebra Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypoplasia of eye bulge Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Streak ovary Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of pubis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microglossia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital hypoplasia of ovary Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lethal occipital encephalocele, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lethal occipital encephalocele, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Lethal occipital encephalocele, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Lethal occipital encephalocele, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Occipital encephalocele Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Distal Xq28 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Maffucci syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Meningoencephalocele Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ulegyria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital tracheoesophageal cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital tracheoesophageal cleft Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Origin of innominate artery from left side of aortic arch Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Left ventricular-right atrial communication Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intramedullary glomus arteriovenous malformation of spinal cord Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intramedullary glomus arteriovenous malformation of spinal cord Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intramedullary and extramedullary arteriovenous malformation of spinal cord Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intramedullary and extramedullary arteriovenous malformation of spinal cord Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Stenosis of systemic to pulmonary artery collateral artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Otomandibular dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Central complete cleft palate Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hypermobile Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lunate-triquetrum synostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Acrodysplasia scoliosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Acrodysplasia scoliosis Occurrence True Congenital Inferred relationship Existential restriction modifier 3

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