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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

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
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence True Congenital Inferred relationship Some 2
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence True Congenital Inferred relationship Some 3
DNA2-related mitochondrial DNA deletion syndrome Occurrence True Congenital Inferred relationship Some 1
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 Occurrence False Congenital Inferred relationship Some 2
Thin ribs, tubular bones, dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Thin ribs, tubular bones, dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Progressive myoclonic epilepsy type 3 Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 20q Occurrence False Congenital Inferred relationship Some 2
Distal monosomy 20q Occurrence False Congenital Inferred relationship Some 1
RIDDLE syndrome Occurrence True Congenital Inferred relationship Some 2
RIDDLE syndrome Occurrence True Congenital Inferred relationship Some 1
Talipes valgus of left foot Occurrence True Congenital Inferred relationship Some 1
FATCO syndrome Occurrence True Congenital Inferred relationship Some 1
Persistent Eustachian valve Occurrence True Congenital Inferred relationship Some 1
Persistent Eustachian valve Occurrence True Congenital Inferred relationship Some 2
Aplasia of uterine cervix Occurrence True Congenital Inferred relationship Some 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Occurrence True Congenital Inferred relationship Some 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Occurrence True Congenital Inferred relationship Some 2
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Occurrence True Congenital Inferred relationship Some 1
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Occurrence True Congenital Inferred relationship Some 2
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, intellectual disability, autism syndrome Occurrence True Congenital Inferred relationship Some 2
Macrocephaly, intellectual disability, autism syndrome Occurrence True Congenital Inferred relationship Some 1
Dysplastic cortical hyperostosis Occurrence True Congenital Inferred relationship Some 1
Mosaic genome-wide paternal uniparental disomy Occurrence True Congenital Inferred relationship Some 1
Atypical dentin dysplasia due to SMOC2 deficiency Occurrence True Congenital Inferred relationship Some 1
Subaortic stenosis and short stature syndrome Occurrence True Congenital Inferred relationship Some 1
Radial deficiency, tibial hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Radial deficiency, tibial hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Holzgreve syndrome Occurrence True Congenital Inferred relationship Some 3
Holzgreve syndrome Occurrence True Congenital Inferred relationship Some 1
Holzgreve syndrome Occurrence True Congenital Inferred relationship Some 2
Holzgreve syndrome Occurrence True Congenital Inferred relationship Some 4
Stickler syndrome type 3 Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 3 Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 3 Occurrence True Congenital Inferred relationship Some 3
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency Occurrence True Congenital Inferred relationship Some 1
Thoracomelic dysplasia Occurrence True Congenital Inferred relationship Some 2
Thoracomelic dysplasia Occurrence True Congenital Inferred relationship Some 1
Talipes valgus of right foot Occurrence True Congenital Inferred relationship Some 1
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Some 6
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Some 3
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Some 5
Meningomyelocele of lumbosacral spine Occurrence False Congenital Inferred relationship Some 3
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Some 2
Lipomyelomeningocele Occurrence True Congenital Inferred relationship Some 1
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 3
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 6
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 5
Lipomyelomeningocele Occurrence True Congenital Inferred relationship Some 2
Lumbar meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Lumbar meningomyelocele Occurrence True Congenital Inferred relationship Some 1
Ankyloblepharon filiforme adnatum with cleft palate syndrome Occurrence True Congenital Inferred relationship Some 1
Ankyloblepharon filiforme adnatum with cleft palate syndrome Occurrence True Congenital Inferred relationship Some 2
Hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 4
Hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 1
Hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 6
Hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 2
Congenital muscular dystrophy with cerebellar involvement Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with cerebellar involvement Occurrence True Congenital Inferred relationship Some 2
Meningomyelocele Occurrence True Congenital Inferred relationship Some 4
Meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Meningomyelocele Occurrence True Congenital Inferred relationship Some 3
Meningomyelocele Occurrence True Congenital Inferred relationship Some 1
Meningomyelocele Occurrence False Congenital Inferred relationship Some 2
High lumbar myelomeningocele Occurrence False Congenital Inferred relationship Some 4
High lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 5
High lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 3
High lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 2
Thoracic meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Thoracic meningomyelocele Occurrence True Congenital Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome Occurrence False Congenital Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Low lumbar myelomeningocele Occurrence False Congenital Inferred relationship Some 4
Low lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 5
Low lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 3
Low lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 2
Congenital hypothyroidism due to maternal intake of antithyroid drug Occurrence True Congenital Inferred relationship Some 1
Myelomeningocele without hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Myelomeningocele without hydrocephalus Occurrence True Congenital Inferred relationship Some 2
Myelomeningocele without hydrocephalus Occurrence False Congenital Inferred relationship Some 5
Myelomeningocele without hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Myelomeningocele without hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Occurrence False Congenital Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Occurrence False Congenital Inferred relationship Some 1
Spina bifida aperta Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Occurrence True Congenital Inferred relationship Some 2
Myelomeningocoele and hydrocephalus Occurrence True Congenital Inferred relationship Some 5
Congenital muscular dystrophy without intellectual disability Occurrence True Congenital Inferred relationship Some 1
Cervical meningomyelocele Occurrence True Congenital Inferred relationship Some 3
Cervical meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Reunion-Indiana Amish type muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Manifesting female carrier of X-linked muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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