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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
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Occurrence True Congenital Inferred relationship Some 3
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Occurrence True Congenital Inferred relationship Some 2
Weber's true diffuse phlebarteriectasis Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of foot and ankle Occurrence True Congenital Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence True Congenital Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant hypophosphataemic bone disease Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital rectovesical fistula Occurrence True Congenital Inferred relationship Some 1
Mitral leaflet dysplasia Occurrence True Congenital Inferred relationship Some 1
Schinzel phocomelia syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital wide symphysis pubis Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy Occurrence True Congenital Inferred relationship Some 2
Congenital neuropathy with arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 1
Aniridia type 1 Occurrence True Congenital Inferred relationship Some 1
Hydrocephalus associated with congenital aqueduct stenosis Occurrence True Congenital Inferred relationship Some 1
Atresia of pulmonary trunk with absent right pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Mullerian duct and limb anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Microdysgenesis Occurrence True Congenital Inferred relationship Some 1
Oromandibular-limb hypogenesis spectrum Occurrence True Congenital Inferred relationship Some 1
Oromandibular-limb hypogenesis spectrum Occurrence True Congenital Inferred relationship Some 2
Hypertelorism with microtia and facial clefting syndrome Occurrence True Congenital Inferred relationship Some 3
Isolated hereditary congenital facial paralysis Occurrence True Congenital Inferred relationship Some 1
Saito Kuba Tsuruta syndrome Occurrence True Congenital Inferred relationship Some 2
Saito Kuba Tsuruta syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital atresia of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 1
Bilateral deficient infundibula Occurrence True Congenital Inferred relationship Some 1
Spondylo-ocular syndrome Occurrence False Congenital Inferred relationship Some 1
Glanular hypospadias Occurrence True Congenital Inferred relationship Some 2
Caudal dysplasia sequence Occurrence True Congenital Inferred relationship Some 1
Bilateral incomplete cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some 2
Bilateral incomplete cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some 1
Cystic hygroma Occurrence True Congenital Inferred relationship Some 1
Displacement of Wharton's duct Occurrence True Congenital Inferred relationship Some 2
Displacement of Wharton's duct Occurrence True Congenital Inferred relationship Some 1
Haddad syndrome Occurrence True Congenital Inferred relationship Some 1
Haddad syndrome Occurrence True Congenital Inferred relationship Some 2
Hypertrichosis and acromegaloid facial appearance syndrome Occurrence False Congenital Inferred relationship Some 1
Hypertrichosis and acromegaloid facial appearance syndrome Occurrence False Congenital Inferred relationship Some 2
14q22q23 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 5
Malformation of throat Occurrence False Congenital Inferred relationship Some 1
Craniosynostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease of rectosigmoid region Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease of rectosigmoid region Occurrence True Congenital Inferred relationship Some 2
Phakomatosis spilorosea Occurrence True Congenital Inferred relationship Some 1
Phakomatosis spilorosea Occurrence True Congenital Inferred relationship Some 2
Right ventricular outflow tract obstruction Occurrence False Congenital Inferred relationship Some 1
Flat birthmark Occurrence False Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct ligament arising from retro-oesophageal aortic diverticulum with aberrant right subclavian artery Occurrence True Congenital Inferred relationship Some 1
Ectopic gastric mucosa - multiple sites Occurrence True Congenital Inferred relationship Some 1
Adducted thumbs and arthrogryposis syndrome Christian type Occurrence True Congenital Inferred relationship Some 3
Adducted thumbs and arthrogryposis syndrome Christian type Occurrence True Congenital Inferred relationship Some 1
Adducted thumbs and arthrogryposis syndrome Christian type Occurrence True Congenital Inferred relationship Some 2
Complete perimaxillary faciosynostosis Occurrence True Congenital Inferred relationship Some 1
Ablepharon macrostomia syndrome Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 4
Blepharocheilodontic syndrome Occurrence True Congenital Inferred relationship Some 1
Acro-pectoro-renal dysplasia Occurrence False Congenital Inferred relationship Some 2
Acro-pectoro-renal dysplasia Occurrence False Congenital Inferred relationship Some 1
Muscular ventricular septal defect in inlet septum Occurrence True Congenital Inferred relationship Some 1
Diaphyseal medullary stenosis with bone malignancy Occurrence True Congenital Inferred relationship Some 1
Craniolacunia Occurrence True Congenital Inferred relationship Some 1
Congenital asymmetry of forehead Occurrence True Congenital Inferred relationship Some 1
Atelosteogenesis type 3 Occurrence True Congenital Inferred relationship Some 1
Torg type osteolysis Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of larynx, trachea and bronchus Occurrence True Congenital Inferred relationship Some 1
Persistent tuberculum impar Occurrence True Congenital Inferred relationship Some 1
Filippi syndrome Occurrence True Congenital Inferred relationship Some 2
Filippi syndrome Occurrence True Congenital Inferred relationship Some 3
Filippi syndrome Occurrence True Congenital Inferred relationship Some 1
Timothy syndrome type 2 Occurrence True Congenital Inferred relationship Some 1
Central serous retinopathy with pit of optic disc Occurrence False Congenital Inferred relationship Some 1
Global developmental delay, osteopenia, ectodermal defect syndrome Occurrence True Congenital Inferred relationship Some 1
Toriello Lacassie Droste syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, type IV B Occurrence True Congenital Inferred relationship Some 1
Anophthalmia plus syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital failure of eye elevation Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of radius Occurrence True Congenital Inferred relationship Some 1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome Occurrence True Congenital Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome Occurrence False Congenital Inferred relationship Some 4
Indeterminate ventricular outflow tract obstruction Occurrence True Congenital Inferred relationship Some 1
Branchiogenic deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Tricho-oculodermovertebral syndrome Occurrence True Congenital Inferred relationship Some 1
Ear, face and neck congenital anomalies Occurrence True Congenital Inferred relationship Some 1
First and second branchial arch syndrome Occurrence True Congenital Inferred relationship Some 1
H-type congenital tracheo-oesophageal fistula Occurrence True Congenital Inferred relationship Some 1
Myelocystocele Occurrence True Congenital Inferred relationship Some 2
Overriding right ventriculoarterial valve Occurrence False Congenital Inferred relationship Some 1
Melnick-Fraser syndrome Occurrence True Congenital Inferred relationship Some 1
Dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to right atrium Occurrence True Congenital Inferred relationship Some 1
Phakomatosis caesiomarmorata Occurrence True Congenital Inferred relationship Some 1
Phakomatosis caesiomarmorata Occurrence True Congenital Inferred relationship Some 2
Potter's facies Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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