255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Congenital

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital	Is a	Periods of life	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oligodontia and cancer predisposition syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Oligodontia and cancer predisposition syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
medfött spinalt hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	1
medfött spinalt hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	3
medfött spinalt hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	4
9q31.1q31.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
9q31.1q31.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
9q31.1q31.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Split hand, split foot malformation with sensorineural hearing loss syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Split hand, split foot malformation with sensorineural hearing loss syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
kranialt hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital abnormality of cardiac ventricle	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital spade-like hand	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital bowing of femur	Occurrence	True	Congenital	Inferred relationship	Some	1
Rhinocephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Rhinocephaly	Occurrence	True	Congenital	Inferred relationship	Some	2
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
13q12.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
13q12.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
13q12.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
14q24.1q24.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
14q24.1q24.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex due to BP230 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypoplastic left heart syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Turner's tooth	Occurrence	True	Congenital	Inferred relationship	Some	1
Ocular albinism with congenital sensorineural deafness	Occurrence	True	Congenital	Inferred relationship	Some	3
Ocular albinism with congenital sensorineural deafness	Occurrence	True	Congenital	Inferred relationship	Some	2
Ocular albinism with congenital sensorineural deafness	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital chronic diarrhea with protein-losing enteropathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of skull (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of ischium	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of vertebra (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of eye bulge	Occurrence	True	Congenital	Inferred relationship	Some	1
Streak ovary	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of pubis	Occurrence	True	Congenital	Inferred relationship	Some	1
Microglossia	Occurrence	True	Congenital	Inferred relationship	Some	1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital hypoplasia of ovary (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Occipital encephalocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Distal Xq28 microduplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Maffucci syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Meningoencephalocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Ulegyria	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital tracheo-oesophageal cleft	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital tracheo-oesophageal cleft	Occurrence	True	Congenital	Inferred relationship	Some	1
Origin of innominate artery from left side of aortic arch	Occurrence	True	Congenital	Inferred relationship	Some	1
Left ventricular-right atrial communication	Occurrence	True	Congenital	Inferred relationship	Some	1
Intramedullary glomus arteriovenous malformation of spinal cord (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Intramedullary glomus arteriovenous malformation of spinal cord (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Stenosis of systemic to pulmonary artery collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	1
Otomandibular dysostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Occurrence	False	Congenital	Inferred relationship	Some	1
Central complete cleft palate	Occurrence	True	Congenital	Inferred relationship	Some	1
Ehlers-Danlos syndrome, type 3	Occurrence	True	Congenital	Inferred relationship	Some	1
Lunate-triquetrum synostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Acrodysplasia scoliosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Acrodysplasia scoliosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3

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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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)