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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
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Occurrence True Congenital Inferred relationship Some 1
Thoracic spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Occurrence True Congenital Inferred relationship Some 1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Occurrence True Congenital Inferred relationship Some 2
Ackerman syndrome Occurrence True Congenital Inferred relationship Some 2
Ackerman syndrome Occurrence True Congenital Inferred relationship Some 1
Crouzon syndrome Occurrence True Congenital Inferred relationship Some 1
Crouzon syndrome Occurrence True Congenital Inferred relationship Some 2
Ruptured spinal arteriovenous malformation Occurrence True Congenital Inferred relationship Some 1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Occurrence True Congenital Inferred relationship Some 1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Occurrence True Congenital Inferred relationship Some 2
Senter syndrome Occurrence True Congenital Inferred relationship Some 1
Fibrolipoma of filum terminale Occurrence True Congenital Inferred relationship Some 1
Spondylodysplastic group Occurrence True Congenital Inferred relationship Some 1
Thoracic aortic coarctation Occurrence True Congenital Inferred relationship Some 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of left heart without intrinsic valve stenosis and without atresia Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of humerus Occurrence True Congenital Inferred relationship Some 1
Basal epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
Goltz syndrome Occurrence False Congenital Inferred relationship Some 1
Simple syndactyly of toes second to fourth web Occurrence False Congenital Inferred relationship Some 1
Qazi Markouizos syndrome Occurrence True Congenital Inferred relationship Some 1
Qazi Markouizos syndrome Occurrence True Congenital Inferred relationship Some 2
Qazi Markouizos syndrome Occurrence True Congenital Inferred relationship Some 3
Fried's tooth and nail syndrome Occurrence True Congenital Inferred relationship Some 1
Radioulnar synostosis and dislocation of radial head Occurrence True Congenital Inferred relationship Some 2
Radioulnar synostosis and dislocation of radial head Occurrence True Congenital Inferred relationship Some 1
Truncal valve dysplasia Occurrence False Congenital Inferred relationship Some 1
Thickened earlobe with conductive deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Thickened earlobe with conductive deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct Occurrence True Congenital Inferred relationship Some 1
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct Occurrence True Congenital Inferred relationship Some 2
Auriculo-condylar syndrome Occurrence True Congenital Inferred relationship Some 1
Pili torti with developmental delay and neurological abnormality syndrome Occurrence True Congenital Inferred relationship Some 1
Constriction ring of lower limb with lymphoedema Occurrence True Congenital Inferred relationship Some 1
Coronary orifice asymmetrical Occurrence True Congenital Inferred relationship Some 1
Arthrogryposis with renal dysfunction and cholestasis syndrome Occurrence True Congenital Inferred relationship Some 1
Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Cleft palate with short stature and vertebral anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Thanatophoric dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital cataract with deafness and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cataract with deafness and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Accessory liver Occurrence True Congenital Inferred relationship Some 1
Dicephalus dipus dibrachius Occurrence True Congenital Inferred relationship Some 1
Pseudoaminopterin syndrome Occurrence True Congenital Inferred relationship Some 3
Pseudoaminopterin syndrome Occurrence True Congenital Inferred relationship Some 2
Pseudoaminopterin syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital pectus excavatum Occurrence True Congenital Inferred relationship Some 1
Juvenile GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 1
Thoracolaryngopelvic dysplasia Occurrence True Congenital Inferred relationship Some 2
Thoracolaryngopelvic dysplasia Occurrence True Congenital Inferred relationship Some 1
Acrorenoocular syndrome Occurrence True Congenital Inferred relationship Some 2
Acrorenoocular syndrome Occurrence True Congenital Inferred relationship Some 1
Hypergonadotropic hypogonadism with cataract syndrome Occurrence True Congenital Inferred relationship Some 1
Van den Bosch syndrome Occurrence True Congenital Inferred relationship Some 3
Van den Bosch syndrome Occurrence True Congenital Inferred relationship Some 2
Van den Bosch syndrome Occurrence True Congenital Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Occurrence True Congenital Inferred relationship Some 3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Occurrence True Congenital Inferred relationship Some 5
X-linked lissencephaly with abnormal genitalia syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked lissencephaly with abnormal genitalia syndrome Occurrence True Congenital Inferred relationship Some 2
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 3
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital abnormal retraction of eyelid Occurrence True Congenital Inferred relationship Some 1
Defects of the tubular (and flat) bones and/or axial skeleton Occurrence True Congenital Inferred relationship Some 1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Occurrence True Congenital Inferred relationship Some 1
Pseudohypoparathyroidism type II Occurrence False Congenital Inferred relationship Some 1
Imperforate anus Occurrence False Congenital Inferred relationship Some 1
Focal nodular hypoplasia of liver Occurrence True Congenital Inferred relationship Some 1
Aspartylglucosaminuria Occurrence True Congenital Inferred relationship Some 1
Congenital cystic bronchiectasis Occurrence True Congenital Inferred relationship Some 1
Dysplasia with decreased bone density Occurrence True Congenital Inferred relationship Some 1
Upington disease Occurrence True Congenital Inferred relationship Some 1
Decreased anogenital distance Occurrence True Congenital Inferred relationship Some 1
Amyotrophia congenita Occurrence True Congenital Inferred relationship Some 1
Brachyolmia type 1 Toledo type Occurrence False Congenital Inferred relationship Some 2
Brachyolmia type 1 Toledo type Occurrence False Congenital Inferred relationship Some 1
Congenital pyloric membrane Occurrence True Congenital Inferred relationship Some 1
Congenital cerebral arteriovenous aneurysm Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta co-occurrent with cone rod dystrophy Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia PAPSS2 type Occurrence True Congenital Inferred relationship Some 1
Pseudohermaphroditism Occurrence True Congenital Inferred relationship Some 1
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 2
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 4
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 3
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Neurofibromatosis Noonan syndrome Occurrence True Congenital Inferred relationship Some 2
Neurofibromatosis Noonan syndrome Occurrence True Congenital Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital fibrosis of inferior rectus muscle Occurrence True Congenital Inferred relationship Some 1
Malaligned atrial septum Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve Occurrence True Congenital Inferred relationship Some 1
Lenticonus Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of hyoid bone Occurrence True Congenital Inferred relationship Some 1
Short rib polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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