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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
Potter's facies Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of trachea and bronchus Occurrence True Congenital Inferred relationship Some 1
Cobb's syndrome Occurrence True Congenital Inferred relationship Some 1
Carpal-tarsal osteolysis with nephropathy Occurrence True Congenital Inferred relationship Some 1
Mirror polydactyly, vertebral segmentation and limb defect syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital hypomyelinating neuropathy Occurrence True Congenital Inferred relationship Some 1
Metachondromatosis Occurrence True Congenital Inferred relationship Some 1
Lack of ossification of clavicle Occurrence True Congenital Inferred relationship Some 1
Brachyrachia (short spine dysplasia) Occurrence False Congenital Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Upper moiety ureter of duplex kidney Occurrence True Congenital Inferred relationship Some 1
Lissencephaly syndrome Norman Roberts type Occurrence True Congenital Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence True Congenital Inferred relationship Some 3
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence True Congenital Inferred relationship Some 2
Syndactyly, telecanthus, anogenital and renal malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of ulna and intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Ischio-vertebral syndrome Occurrence True Congenital Inferred relationship Some 1
Cerebrooculonasal syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital epulis of newborn Occurrence True Congenital Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Occurrence False Congenital Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Occurrence True Congenital Inferred relationship Some 2
SCARF syndrome Occurrence True Congenital Inferred relationship Some 2
SCARF syndrome Occurrence True Congenital Inferred relationship Some 1
SCARF syndrome Occurrence True Congenital Inferred relationship Some 3
SCARF syndrome Occurrence True Congenital Inferred relationship Some 4
Sellars Beighton syndrome Occurrence True Congenital Inferred relationship Some 2
Schilbach Rott syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital anteversion of femur Occurrence True Congenital Inferred relationship Some 1
Extensive aganglionosis Hirschsprung disease Occurrence True Congenital Inferred relationship Some 2
Extensive aganglionosis Hirschsprung disease Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow obstruction - localised Occurrence False Congenital Inferred relationship Some 1
Type III short rib polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Dysplastic ovary Occurrence True Congenital Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis Occurrence True Congenital Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis Occurrence True Congenital Inferred relationship Some 2
Congenital torsion of ovary Occurrence True Congenital Inferred relationship Some 1
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome Occurrence True Congenital Inferred relationship Some 1
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome Occurrence True Congenital Inferred relationship Some 2
Dysplasia with increased bone density Occurrence True Congenital Inferred relationship Some 1
Dumbbell ossification of centrum of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Inferior vena cava connecting to coronary sinus Occurrence True Congenital Inferred relationship Some 1
Metatropic dysplasia Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, Jansen type Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip Occurrence True Congenital Inferred relationship Some 2
Poland anomaly Occurrence True Congenital Inferred relationship Some 1
Poland anomaly Occurrence True Congenital Inferred relationship Some 2
Foramen ovale valvar aneurysm Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of eye, ear and neck Occurrence True Congenital Inferred relationship Some 1
Posterior perimaxillary faciosynostosis Occurrence False Congenital Inferred relationship Some 2
Posterior perimaxillary faciosynostosis Occurrence True Congenital Inferred relationship Some 1
Congenital emphysema Occurrence True Congenital Inferred relationship Some 2
Fissured spine Occurrence False Congenital Inferred relationship Some 2
Ectopic pancreatic tissue in stomach Occurrence True Congenital Inferred relationship Some 1
Ectopic pancreatic tissue in stomach Occurrence True Congenital Inferred relationship Some 2
Dural carotid cavernous fistula Occurrence True Congenital Inferred relationship Some 1
Spinal arteriovenous malformation Occurrence True Congenital Inferred relationship Some 1
Persistent urogenital sinus Occurrence True Congenital Inferred relationship Some 1
Late-onset junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Proximal penile hypospadias Occurrence True Congenital Inferred relationship Some 1
Perlman syndrome Occurrence True Congenital Inferred relationship Some 1
Familial expansile osteolysis Occurrence True Congenital Inferred relationship Some 1
Nasofrontal encephalocele Occurrence True Congenital Inferred relationship Some 2
Lamellar ichthyosis (limited type) Occurrence True Congenital Inferred relationship Some 1
Okamoto syndrome Occurrence True Congenital Inferred relationship Some 2
Okamoto syndrome Occurrence True Congenital Inferred relationship Some 3
True congenital varicose veins Occurrence True Congenital Inferred relationship Some 1
Exaggerated cingulum of tooth Occurrence False Congenital Inferred relationship Some 1
Preauricular dimple Occurrence True Congenital Inferred relationship Some 1
Cleft palate with right cleft lip Occurrence True Congenital Inferred relationship Some 1
Self-healing collodion baby Occurrence True Congenital Inferred relationship Some 1
Disorder of sex development with intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital stricture of retinal artery Occurrence True Congenital Inferred relationship Some 1
Bilateral acheiria Occurrence True Congenital Inferred relationship Some 1
O/E - hands - arachnodactyly Occurrence False Congenital Inferred relationship Some 1
Tricho-dento-osseous syndrome Occurrence True Congenital Inferred relationship Some 1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence True Congenital Inferred relationship Some 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence True Congenital Inferred relationship Some 3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence True Congenital Inferred relationship Some 4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Curly hair, ankyloblepharon, nail dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome with periventricular heterotopia Occurrence False Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome with periventricular heterotopia Occurrence False Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome with periventricular heterotopia Occurrence False Congenital Inferred relationship Some 2
Spondyloepiphyseal dysplasia MacDermot type Occurrence True Congenital Inferred relationship Some 1
Systemic to pulmonary collateral artery from coronary artery Occurrence True Congenital Inferred relationship Some 2
Systemic to pulmonary collateral artery from coronary artery Occurrence False Congenital Inferred relationship Some 3
Familial caudal dysgenesis Occurrence True Congenital Inferred relationship Some 1
Absent venous duct Occurrence True Congenital Inferred relationship Some 1
Dandy-Walker malformation with postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Dandy-Walker malformation with postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Dandy-Walker malformation with postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Bilateral congenital absence of ovary Occurrence True Congenital Inferred relationship Some 1
Localised dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Congenital hydrocephalus due to toxoplasmosis Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa pruriginosa Occurrence True Congenital Inferred relationship Some 1
Immature ganglionosis of large intestine Occurrence True Congenital Inferred relationship Some 2
Congenital coronary artery fistula to left ventricle Occurrence True Congenital Inferred relationship Some 1
Double ureter Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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