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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
Occipital pachygyria and polymicrogyria Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lipoic acid synthetase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital stenosis of ostium of coronary artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dermotrichic syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Dermotrichic syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dermotrichic syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
High bone mass osteogenesis imperfecta Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondylometaphyseal dysplasia A4 type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome 21 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lethal arteriopathy syndrome due to fibulin-4 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multisystemic smooth muscle dysfunction syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multisystemic smooth muscle dysfunction syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Multisystemic smooth muscle dysfunction syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital pontocerebellar hypoplasia type 10 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital pontocerebellar hypoplasia type 10 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Otospondylomegaepiphyseal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pontine tegmental cap dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hemoglobinopathy Toms River Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked calvarial hyperostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial adrenal hypoplasia with absent pituitary luteinizing hormone Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Familial adrenal hypoplasia with absent pituitary luteinizing hormone Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Recessive mitochondrial ataxia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Osteomesopycnosis Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome 22 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sphenoidal dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondylometaphyseal dysplasia Czarny Ratajczak type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dobrow syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Extensor tendons of finger anomalies Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Renal caliceal diverticuli and deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Renal caliceal diverticuli and deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thoracic dysplasia and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thoracic dysplasia and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Harlequin ichthyosis Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ichthyosis bullosa of Siemens Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Annular epidermolytic ichthyosis Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Localized bullous ichthyosiform erythroderma Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Richieri Costa-da Silva syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Richieri Costa-da Silva syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Occurrence True Congenital Inferred relationship Existential restriction modifier 3
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 14 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 14 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Thin ribs, tubular bones, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thin ribs, tubular bones, dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Progressive myoclonic epilepsy type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal monosomy 20q syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Distal monosomy 20q syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Talipes valgus of left foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Persistent Eustachian valve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Persistent Eustachian valve Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Aplasia of uterine cervix Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, autism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Macrocephaly, intellectual disability, autism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dysplastic cortical hyperostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic genome-wide paternal uniparental disomy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Subaortic stenosis and short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Radial deficiency, tibial hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Radial deficiency, tibial hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Holzgreve syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Holzgreve syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Holzgreve syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Holzgreve syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Stickler syndrome type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Stickler syndrome type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Stickler syndrome type 3 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thoracomelic dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Thoracomelic dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Talipes valgus of right foot Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Meningomyelocele of lumbosacral spine Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lipomyelomeningocele Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 3

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