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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
Situs inversus abdominalis survenue (attribut) True congénital Inferred relationship Some 1
Congenital mesenteroaxial volvulus of stomach survenue (attribut) True congénital Inferred relationship Some 1
Erythrokeratodermia variabilis survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive dyskeratosis congenita survenue (attribut) True congénital Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) survenue (attribut) True congénital Inferred relationship Some 2
X-linked dyskeratosis congenita (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Situs inversus thoracis survenue (attribut) True congénital Inferred relationship Some 1
Hereditary elliptocytosis due to abnormal protein 4.1 survenue (attribut) True congénital Inferred relationship Some 4
Fibrous dysplasia of jaw survenue (attribut) True congénital Inferred relationship Some 1
Duchenne muscular dystrophy survenue (attribut) True congénital Inferred relationship Some 1
Angelman syndrome survenue (attribut) True congénital Inferred relationship Some 1
Neu-Laxova syndrome survenue (attribut) True congénital Inferred relationship Some 3
Neu-Laxova syndrome survenue (attribut) True congénital Inferred relationship Some 1
Complete phocomelia of upper limb survenue (attribut) True congénital Inferred relationship Some 1
Cleft leaflet of mitral valve survenue (attribut) True congénital Inferred relationship Some 1
Ehlers-Danlos syndrome, familial joint laxity type survenue (attribut) True congénital Inferred relationship Some 4
Hereditary elliptocytosis due to beta spectrin defect in self-association survenue (attribut) True congénital Inferred relationship Some 4
Marshall-Smith syndrome survenue (attribut) True congénital Inferred relationship Some 2
Kommerell's diverticulum survenue (attribut) True congénital Inferred relationship Some 1
Mucopolysaccharidosis, MPS-IV-A survenue (attribut) True congénital Inferred relationship Some 1
Double outlet right ventricle survenue (attribut) True congénital Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type survenue (attribut) True congénital Inferred relationship Some 2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 5
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 4
Septo-optic dysplasia sequence survenue (attribut) True congénital Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Steatocystoma multiplex with natal tooth syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Haddad syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 9
Deafness, enamel hypoplasia, nail defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Dermo-odonto dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
syndrome de maladie de Hirschsprung-brachydactylie type D survenue (attribut) True congénital Inferred relationship Some 4
Johnson neuroectodermal syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Hirschsprung disease of rectosigmoid region (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Extensive aganglionosis Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Okamoto syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Book syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Revesz syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 11
Autosomal recessive spastic paraplegia type 55 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
paraplégie spastique autosomique récessive type 57 survenue (attribut) False congénital Inferred relationship Some 3
Schimke immuno-osseous dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Retinohepatoendocrinologic syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Retinohepatoendocrinologic syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
X-linked hereditary spastic paraplegia (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Atrichia with papular lesions (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hereditary cavernous hemangioma of brain (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Spastic paraplegia, glaucoma, intellectual disability syndrome survenue (attribut) False congénital Inferred relationship Some 4
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) survenue (attribut) True congénital Inferred relationship Some 2
syndrome d'Ehlers-Danlos par déficit en tenascin-X survenue (attribut) True congénital Inferred relationship Some 3
Schwannomatosis survenue (attribut) True congénital Inferred relationship Some 3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis survenue (attribut) False congénital Inferred relationship Some 4
Teebi Shaltout syndrome survenue (attribut) True congénital Inferred relationship Some 4
Chondroectodermal dysplasia with night blindness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Chondroectodermal dysplasia with night blindness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 7
Chondroectodermal dysplasia with night blindness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Conductive deafness, ptosis, skeletal anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 3
Conductive deafness, ptosis, skeletal anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 4
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Curly hair, acral keratoderma, caries syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Focal palmoplantar and gingival keratoderma survenue (attribut) False congénital Inferred relationship Some 3
RAB18, member RAS oncogene family deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Ehlers-Danlos syndrome spondylocheirodysplastic type survenue (attribut) True congénital Inferred relationship Some 3
Roifman syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Complete aphalangia of upper limb survenue (attribut) True congénital Inferred relationship Some 1
Ectopia cordis survenue (attribut) True congénital Inferred relationship Some 1
Lumbosacral prespondylolisthesis survenue (attribut) False congénital Inferred relationship Some 1
Lowe syndrome survenue (attribut) True congénital Inferred relationship Some 2
Lowe syndrome survenue (attribut) True congénital Inferred relationship Some 3
Wildervanck syndrome survenue (attribut) True congénital Inferred relationship Some 2
Wildervanck syndrome survenue (attribut) True congénital Inferred relationship Some 3
Wildervanck syndrome survenue (attribut) True congénital Inferred relationship Some 4
Wildervanck syndrome survenue (attribut) True congénital Inferred relationship Some 5
Ehlers-Danlos syndrome, dominant type 4 survenue (attribut) False congénital Inferred relationship Some 1
Prader-Willi syndrome survenue (attribut) True congénital Inferred relationship Some 3
dysplasie fibreuse monostotique survenue (attribut) True congénital Inferred relationship Some 1
Aicardi's syndrome survenue (attribut) True congénital Inferred relationship Some 1
Floating gallbladder survenue (attribut) True congénital Inferred relationship Some 1
Cor biloculare survenue (attribut) True congénital Inferred relationship Some 1
Cor biloculare survenue (attribut) True congénital Inferred relationship Some 2
Treacher Collins syndrome survenue (attribut) True congénital Inferred relationship Some 2
Familial x-linked hypophosphatemic vitamin D refractory rickets survenue (attribut) True congénital Inferred relationship Some 3
Ehlers-Danlos syndrome, type 1 survenue (attribut) True congénital Inferred relationship Some 1
Ehlers-Danlos syndrome, dysfibronectinemic survenue (attribut) True congénital Inferred relationship Some 1
Osteitis fibrosa cystica survenue (attribut) False congénital Inferred relationship Some 4
Congenital cleft of thymus survenue (attribut) True congénital Inferred relationship Some 1
Neurofibromatosis type 2 survenue (attribut) False congénital Inferred relationship Some 1
Neurofibromatosis type 1 survenue (attribut) True congénital Inferred relationship Some 1
Combined valvular-subvalvular pulmonic stenosis survenue (attribut) True congénital Inferred relationship Some 1
Congenital abnormal fusion of arch of lumbar vertebra survenue (attribut) True congénital Inferred relationship Some 1
Monophthalmos survenue (attribut) True congénital Inferred relationship Some 1
Extracapsular adrenal tissue survenue (attribut) True congénital Inferred relationship Some 1
Hemicentric lumbar centrum survenue (attribut) False congénital Inferred relationship Some 1
Hemicentric thoracic centrum survenue (attribut) False congénital Inferred relationship Some 1
Hologastroschisis survenue (attribut) True congénital Inferred relationship Some 1

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