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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
Schimke immuno-osseous dysplasia Occurrence True Congenital Inferred relationship Some 1
Temporal encephalocele Occurrence True Congenital Inferred relationship Some 2
Eccentric opening of aortic valve Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to fibromuscular tunnel Occurrence False Congenital Inferred relationship Some 1
Ramos Arroyo syndrome Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of basioccipital bone Occurrence True Congenital Inferred relationship Some 1
Left inferior caval vein connecting to left atrium and right atrium Occurrence True Congenital Inferred relationship Some 1
Lethal autosomal recessive epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
Karsch Neugebauer syndrome Occurrence True Congenital Inferred relationship Some 4
Karsch Neugebauer syndrome Occurrence True Congenital Inferred relationship Some 3
Diastrophic dysplasia Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia tarda type IIIa Occurrence True Congenital Inferred relationship Some 1
Anonychia with microcephaly syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant hypophosphataemic rickets Occurrence True Congenital Inferred relationship Some 1
Female infertility due to structural congenital anomaly of cervix Occurrence True Congenital Inferred relationship Some 1
Native American myopathy Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk (truncus arteriosus) Occurrence True Congenital Inferred relationship Some 1
Trisomy 10p Occurrence True Congenital Inferred relationship Some 2
Trisomy 10p Occurrence True Congenital Inferred relationship Some 1
Upper limb defect with eye and ear abnormalities syndrome Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to abnormal cardiac muscle bands Occurrence False Congenital Inferred relationship Some 1
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Occurrence True Congenital Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Eccentric opening of tricuspid aortic valve Occurrence True Congenital Inferred relationship Some 1
Mesomelic dysplasia Savarirayan type Occurrence True Congenital Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Occurrence True Congenital Inferred relationship Some 1
Nemaline myopathy, late onset type Occurrence False Congenital Inferred relationship Some 1
Menkes kinky-hair syndrome Occurrence True Congenital Inferred relationship Some 1
Acrofacial dysostosis Palagonia type Occurrence True Congenital Inferred relationship Some 1
Eichsfeld type congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Aniridia type 2 Occurrence True Congenital Inferred relationship Some 1
FG syndrome Occurrence True Congenital Inferred relationship Some 1
Lumbar hemivertebra - unbalanced Occurrence True Congenital Inferred relationship Some 1
Congenital anourethral fistula Occurrence True Congenital Inferred relationship Some 1
Congenital pyloric antral membrane Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract abnormality Occurrence True Congenital Inferred relationship Some 1
Simple ureterocele Occurrence True Congenital Inferred relationship Some 2
Doubling of uterus with doubling of cervix and vagina Occurrence True Congenital Inferred relationship Some 1
Double renal pelvis Occurrence True Congenital Inferred relationship Some 1
Developmental ovarian cyst Occurrence False Congenital Inferred relationship Some 1
Osteogenesis imperfecta, type IV A Occurrence True Congenital Inferred relationship Some 1
Reinhardt Pfeiffer mesomelic dysplasia Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia Occurrence True Congenital Inferred relationship Some 1
Persistent tunica vasculosa lentis Occurrence True Congenital Inferred relationship Some 2
Persistent tunica vasculosa lentis Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex due to plakophilin deficiency Occurrence True Congenital Inferred relationship Some 1
Epidermolysis simplex superficialis Occurrence True Congenital Inferred relationship Some 1
Dubin-Johnson syndrome Occurrence True Congenital Inferred relationship Some 1
Nodular renal blastema Occurrence True Congenital Inferred relationship Some 1
Matthew Wood syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary lymphangiectasis Occurrence True Congenital Inferred relationship Some 1
Abnormal connection of hepatic vein to atrium Occurrence True Congenital Inferred relationship Some 1
Enamel spur Occurrence False Congenital Inferred relationship Some 1
Total congenital alopecia Occurrence False Congenital Inferred relationship Some 1
Atelosteogenesis type 1 Occurrence True Congenital Inferred relationship Some 1
Winchester syndrome Occurrence True Congenital Inferred relationship Some 1
Frontoethmoidal encephalocele Occurrence True Congenital Inferred relationship Some 1
Hutchinson's triad Occurrence True Congenital Inferred relationship Some 2
Hereditary neurocutaneous angiomata Occurrence True Congenital Inferred relationship Some 1
Distal penile hypospadias Occurrence True Congenital Inferred relationship Some 1
Fibular dimelia diplopodia syndrome Occurrence True Congenital Inferred relationship Some 1
Ulbright Hodes syndrome Occurrence True Congenital Inferred relationship Some 1
Ulbright Hodes syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital bilateral internal tibial torsion Occurrence True Congenital Inferred relationship Some 1
Congenital bilateral internal tibial torsion Occurrence True Congenital Inferred relationship Some 2
Spondyloepiphyseal dysplasia tarda Kohn type Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip Occurrence True Congenital Inferred relationship Some 2
Cleft hard and soft palate with right cleft lip Occurrence True Congenital Inferred relationship Some 1
Endosteal hyperostoses with cerebellar hypoplasia Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to malaligned outlet septum Occurrence False Congenital Inferred relationship Some 1
Right ventricular muscular infundibular stenosis Occurrence True Congenital Inferred relationship Some 1
Completely unroofed coronary sinus defect in left atrium Occurrence True Congenital Inferred relationship Some 1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Junctional epidermolysis bullosa non-Herlitz type Occurrence True Congenital Inferred relationship Some 1
Deaf blind hypopigmentation syndrome Yemenite type Occurrence True Congenital Inferred relationship Some 1
Deaf blind hypopigmentation syndrome Yemenite type Occurrence True Congenital Inferred relationship Some 2
Atelosteogenesis/diastrophic dysplasia Occurrence False Congenital Inferred relationship Some 1
Rhizomelic chondrodysplasia punctata syndrome Occurrence True Congenital Inferred relationship Some 2
Rhizomelic chondrodysplasia punctata syndrome Occurrence True Congenital Inferred relationship Some 1
Preductal hypoplasia of aorta Occurrence True Congenital Inferred relationship Some 1
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-nail defect Occurrence True Congenital Inferred relationship Some 1
Spina bifida aperta Occurrence True Congenital Inferred relationship Some 3
Congenital cystic adenomatoid malformation of lung Occurrence True Congenital Inferred relationship Some 1
Cholestasis with pigmentary retinopathy and cleft palate syndrome Occurrence True Congenital Inferred relationship Some 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome Occurrence True Congenital Inferred relationship Some 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome Occurrence True Congenital Inferred relationship Some 4
Chondrodysplasia punctata, MT type Occurrence True Congenital Inferred relationship Some 1
Cervical thyroid remnant Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome Occurrence True Congenital Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome Occurrence True Congenital Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome Occurrence False Congenital Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome Occurrence True Congenital Inferred relationship Some 3
Pretibial epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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