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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Oculomaxillofacial dysostosis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Double aortic arch with right arch dominant (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Leukonychia totalis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital muscular dystrophy type 1B survenue (attribut) True congénital Inferred relationship Some 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis survenue (attribut) True congénital Inferred relationship Some 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis survenue (attribut) True congénital Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome survenue (attribut) False congénital Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital cholesteatoma survenue (attribut) True congénital Inferred relationship Some 1
Double aortic arch with left arch dominant and right arch patent (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome de mèches blanches et anomalies multiples survenue (attribut) True congénital Inferred relationship Some 2
syndrome de mèches blanches et anomalies multiples survenue (attribut) True congénital Inferred relationship Some 1
syndrome de mèches blanches et anomalies multiples survenue (attribut) True congénital Inferred relationship Some 4
syndrome de mèches blanches et anomalies multiples survenue (attribut) True congénital Inferred relationship Some 3
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Familial progressive hyper and hypopigmentation survenue (attribut) True congénital Inferred relationship Some 1
Joubert syndrome with orofaciodigital defect (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Double aortic arch with balanced arches (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 4
trisomie distale 5q survenue (attribut) True congénital Inferred relationship Some 1
Double aortic arch with right arch dominant and atresia of left arch (disorder) survenue (attribut) True congénital Inferred relationship Some 2
2q33.1 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 10 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Complete left cleft lip and complete cleft of left alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 5A survenue (attribut) False congénital Inferred relationship Some 1
Craniosynostosis Herrmann Opitz type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Prelingual non-syndromic genetic deafness (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome oculo-auriculaire type Schorderet survenue (attribut) True congénital Inferred relationship Some 1
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 2
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 22 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Oro-facial digital syndrome type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Oro-facial digital syndrome type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Oro-facial digital syndrome type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Oro-facial digital syndrome type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 48 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Mosaic trisomy 15 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Brachydactyly elbow wrist dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lichtenstein syndrome survenue (attribut) True congénital Inferred relationship Some 1
Cleft palate, large ears, small head syndrome survenue (attribut) True congénital Inferred relationship Some 1
Cleft palate, large ears, small head syndrome survenue (attribut) True congénital Inferred relationship Some 2
Incomplete right cleft lip survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 survenue (attribut) False congénital Inferred relationship Some 1
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 62 survenue (attribut) False congénital Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome survenue (attribut) True congénital Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome survenue (attribut) True congénital Inferred relationship Some 2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome survenue (attribut) True congénital Inferred relationship Some 3
19p13.13 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Complicated hereditary spastic paraplegia survenue (attribut) False congénital Inferred relationship Some 1
syndrome oro-facio-digital type 5 survenue (attribut) True congénital Inferred relationship Some 3
King Denborough syndrome survenue (attribut) True congénital Inferred relationship Some 1
paraplégie spastique autosomique type 30 survenue (attribut) False congénital Inferred relationship Some 1
Postlingual non-syndromic genetic deafness survenue (attribut) False congénital Inferred relationship Some 1
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome survenue (attribut) True congénital Inferred relationship Some 3
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome survenue (attribut) True congénital Inferred relationship Some 4
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome survenue (attribut) True congénital Inferred relationship Some 2
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome survenue (attribut) True congénital Inferred relationship Some 1
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque survenue (attribut) True congénital Inferred relationship Some 4
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque survenue (attribut) True congénital Inferred relationship Some 3
syndrome de dysmorphie faciale, surdité de transmission, malformation cardiaque survenue (attribut) True congénital Inferred relationship Some 1
Finnish upper limb onset distal myopathy survenue (attribut) False congénital Inferred relationship Some 1
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Complete right cleft lip and complete cleft of right alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 16 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Severe combined immunodeficiency due to CTPS1 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome survenue (attribut) True congénital Inferred relationship Some 4
Trichodermodysplasia and dental alterations syndrome survenue (attribut) True congénital Inferred relationship Some 2
Trichodermodysplasia and dental alterations syndrome survenue (attribut) True congénital Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome survenue (attribut) True congénital Inferred relationship Some 3
Incomplete right cleft lip and incomplete cleft of right alveolar process of maxilla survenue (attribut) True congénital Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Incomplete left cleft lip (disorder) survenue (attribut) True congénital Inferred relationship Some 1
SHOX-related short stature survenue (attribut) True congénital Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Spondyloepimetaphyseal dysplasia Handigodu type survenue (attribut) True congénital Inferred relationship Some 1
Right aortic arch and right descending aorta survenue (attribut) True congénital Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome survenue (attribut) True congénital Inferred relationship Some 2
Odonto onycho dysplasia with alopecia syndrome survenue (attribut) True congénital Inferred relationship Some 1
Odonto onycho dysplasia with alopecia syndrome survenue (attribut) False congénital Inferred relationship Some 3
Odonto onycho dysplasia with alopecia syndrome survenue (attribut) True congénital Inferred relationship Some 4
Double aortic arch survenue (attribut) True congénital Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 12 syndrome survenue (attribut) True congénital Inferred relationship Some 1
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère survenue (attribut) True congénital Inferred relationship Some 1
Progressive external ophthalmoplegia, myopathy, emaciation syndrome survenue (attribut) True congénital Inferred relationship Some 1
Progressive external ophthalmoplegia, myopathy, emaciation syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 17 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 19 survenue (attribut) False congénital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 19 survenue (attribut) False congénital Inferred relationship Some 1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome survenue (attribut) False congénital Inferred relationship Some 2
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome survenue (attribut) False congénital Inferred relationship Some 3
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome survenue (attribut) False congénital Inferred relationship Some 1
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes survenue (attribut) True congénital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 4

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