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255399007: Congenital (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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
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 (disorder) Occurrence True Congenital Inferred relationship Some 3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Macrocephaly, short stature, paraplegia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Pretibial epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) 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
Phocomelia Schinzel type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital wide symphysis pubis (disorder) Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
kongenital neuropati med arthrogryphosis multiplex congenita Occurrence False Congenital Inferred relationship Some 1
Aniridia type 1 Occurrence True Congenital Inferred relationship Some 1
Hydrocephalus associated with congenital aqueduct stenosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Atresia of pulmonary trunk with absent right pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Mullerian duct and limb anomalies syndrome (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 3
Isolated hereditary congenital facial paralysis (disorder) Occurrence True Congenital Inferred relationship Some 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Atresia of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 1
Bilateral deficient infundibula Occurrence True Congenital Inferred relationship Some 1
Spondyloocular syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Glanular hypospadias Occurrence True Congenital Inferred relationship Some 2
Caudal regression syndrome Occurrence True Congenital Inferred relationship Some 1
partiellt bilateralt kluven gom med kluven läpp Occurrence False Congenital Inferred relationship Some 2
partiellt bilateralt kluven gom med kluven läpp Occurrence False Congenital Inferred relationship Some 1
Cystic hygroma (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Haddad syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Occurrence False Congenital Inferred relationship Some 1
syndrom med hypertrikos och ansiktsutseende av akromegaloid typ Occurrence False Congenital Inferred relationship Some 2
14q22q23 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 5
missbildning av strupen Occurrence False Congenital Inferred relationship Some 1
Craniosynostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease of rectosigmoid region (disorder) Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease of rectosigmoid region (disorder) 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 retroesophageal aortic diverticulum with aberrant right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectopic gastric mucosa - multiple sites (disorder) Occurrence True Congenital Inferred relationship Some 1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence True Congenital Inferred relationship Some 3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence True Congenital Inferred relationship Some 1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence True Congenital Inferred relationship Some 2
Complete perimaxillary faciosynostosis Occurrence True Congenital Inferred relationship Some 1
Ablepharon macrostomia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 4
Blepharocheilodontic syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
akropektororenal dysplasi Occurrence False Congenital Inferred relationship Some 2
akropektororenal dysplasi 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniolacunia Occurrence True Congenital Inferred relationship Some 1
Congenital asymmetry of forehead (disorder) Occurrence True Congenital Inferred relationship Some 1
Atelosteogenesis type 3 (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 2
Filippi syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Filippi syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Timothy syndrome type 2 (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, type IV B Occurrence True Congenital Inferred relationship Some 1
Anophthalmia plus syndrome (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4

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