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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
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum Occurrence True Congenital Inferred relationship Some 1
Lethal recessive chondrodysplasia Occurrence True Congenital Inferred relationship Some 1
Roberts-SC phocomelia syndrome Occurrence True Congenital Inferred relationship Some 1
Anterior imbrication of teeth Occurrence False Congenital Inferred relationship Some 1
Right superior caval vein connecting to left atrium and right atrium Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with natal teeth Turnpenny type Occurrence True Congenital Inferred relationship Some 1
Thoracic spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Hyperplastic tooth follicle Occurrence False Congenital Inferred relationship Some 1
Hyperplastic tooth follicle Occurrence False Congenital Inferred relationship Some 2
Disorganised development of cartilaginous and fibrous components of the skeleton Occurrence True Congenital Inferred relationship Some 1
Uterus bicornuatus vetularum Occurrence True Congenital Inferred relationship Some 1
Kniest-Stickler dysplasia group Occurrence False Congenital Inferred relationship Some 1
Multiple congenital articular rigidities Occurrence False Congenital Inferred relationship Some 1
Simple syndactyly of toes of bilateral feet Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 6 Occurrence False Congenital Inferred relationship Some 1
Interrupted aortic arch between left subclavian and left common carotid artery Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of atrioventricular valves in atrioventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Septate vagina affecting pregnancy Occurrence True Congenital Inferred relationship Some 1
Polydactyly of thumb Occurrence False Congenital Inferred relationship Some 1
Ectodermal dysplasia-ocular malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex, Ogna type Occurrence True Congenital Inferred relationship Some 1
Lingual thyroid Occurrence True Congenital Inferred relationship Some 1
Short stature with webbed neck and congenital heart disease syndrome Occurrence True Congenital Inferred relationship Some 1
Short stature with webbed neck and congenital heart disease syndrome Occurrence True Congenital Inferred relationship Some 2
Ichthyosis, oral and digital anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Ichthyosis, oral and digital anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Neurocutaneous melanosis sequence Occurrence False Congenital Inferred relationship Some 1
Isolation of left subclavian artery Occurrence False Congenital Inferred relationship Some 2
Ectopic liver Occurrence True Congenital Inferred relationship Some 1
Holoprosencephaly craniosynostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Acrocephalosyndactyly type I Occurrence True Congenital Inferred relationship Some 1
Acrocephalosyndactyly type I Occurrence True Congenital Inferred relationship Some 2
MOMO syndrome Occurrence True Congenital Inferred relationship Some 1
MOMO syndrome Occurrence True Congenital Inferred relationship Some 2
Oculoosteocutaneous syndrome Occurrence True Congenital Inferred relationship Some 1
Adult fucosidosis Occurrence False Congenital Inferred relationship Some 1
Notomelus Occurrence True Congenital Inferred relationship Some 1
Game Friedman Paradice syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital hereditary facial paralysis with variable hearing loss syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital hereditary facial paralysis with variable hearing loss syndrome Occurrence True Congenital Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence True Congenital Inferred relationship Some 2
Contracture with ectodermal dysplasia and orofacial cleft syndrome Occurrence True Congenital Inferred relationship Some 3
Cataract and microcornea syndrome Occurrence True Congenital Inferred relationship Some 1
Fusion of crown of teeth Occurrence False Congenital Inferred relationship Some 1
Congenital coronary artery fistula to left atrium Occurrence True Congenital Inferred relationship Some 1
Lethal arthrogryposis with anterior horn cell disease Occurrence False Congenital Inferred relationship Some 1
Patent ductus arteriosus - delayed closure Occurrence True Congenital Inferred relationship Some 1
Leri's pleonosteosis syndrome Occurrence True Congenital Inferred relationship Some 1
Ichthyosis congenita with biliary atresia Occurrence True Congenital Inferred relationship Some 1
Acrofacial dysostosis Catania type Occurrence True Congenital Inferred relationship Some 1
Laryngeal cleft type I Occurrence True Congenital Inferred relationship Some 1
Urachal diverticulum Occurrence True Congenital Inferred relationship Some 1
Spondylocamptodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Occurrence True Congenital Inferred relationship Some 1
Congenital corneal opacity not interfering with vision Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage to right atrium Occurrence True Congenital Inferred relationship Some 2
Radioulnar synostosis Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of right ventricular inflow tract Occurrence True Congenital Inferred relationship Some 1
Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence False Congenital Inferred relationship Some 1
Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence False Congenital Inferred relationship Some 3
Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence False Congenital Inferred relationship Some 2
Absent venous duct with direct connection of umbilical vein to renal vein Occurrence True Congenital Inferred relationship Some 3
Absent venous duct with direct connection of umbilical vein to renal vein Occurrence True Congenital Inferred relationship Some 2
Absent venous duct with direct connection of umbilical vein to renal vein Occurrence True Congenital Inferred relationship Some 1
Dominant dystrophic epidermolysis bullosa with absence of skin Occurrence True Congenital Inferred relationship Some 2
Joubert syndrome with hepatic defect Occurrence True Congenital Inferred relationship Some 1
High assimilation pelvis Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital trigger thumb of hand Occurrence True Congenital Inferred relationship Some 1
Aorta to right ventricle tunnel Occurrence True Congenital Inferred relationship Some 1
Duane anomaly, myopathy, scoliosis syndrome Occurrence True Congenital Inferred relationship Some 1
Duane anomaly, myopathy, scoliosis syndrome Occurrence True Congenital Inferred relationship Some 2
Persistent Gartner's duct Occurrence False Congenital Inferred relationship Some 2
Ocular melanosis Occurrence True Congenital Inferred relationship Some 1
Complete cleft hard and soft palate Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall Occurrence True Congenital Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration syndrome Occurrence True Congenital Inferred relationship Some 1
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital retraction of nipple Occurrence True Congenital Inferred relationship Some 1
Aortic valve overriding ventricular septum Occurrence True Congenital Inferred relationship Some 1
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Occurrence True Congenital Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Persisting fifth aortic arch with double barrell arch Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
Congenital diaphragmatic hernia Occurrence True Congenital Inferred relationship Some 2
Cutis laxa, autosomal dominant Occurrence True Congenital Inferred relationship Some 1
Paravaginal cyst arising in mesonephric duct Occurrence True Congenital Inferred relationship Some 1
Pili torti-deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Acral dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Functionally congenital single lung Occurrence True Congenital Inferred relationship Some 1
Rothmund-Thomson syndrome Occurrence True Congenital Inferred relationship Some 1
Micromelic dwarfism Fryns type Occurrence False Congenital Inferred relationship Some 3
Abnormal course of aortic arch and descending aorta Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of lacrimal bone Occurrence True Congenital Inferred relationship Some 1
Isolation of right subclavian artery Occurrence False Congenital Inferred relationship Some 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa Occurrence True Congenital Inferred relationship Some 1
Trigonocephaly Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital absence of fallopian tube Occurrence True Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia - Sutcliffe type Occurrence True Congenital Inferred relationship Some 1
Rachischisis Occurrence True Congenital Inferred relationship Some 2
Spina bifida aperta of cervical spine Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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