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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
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
8p23.1 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
8p23.1 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
1q41q42 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
1q41q42 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital infection caused by Epstein-Barr virus (disorder) survenue (attribut) True congénital Inferred relationship Some 1
17q21.31 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Familial hypospadias of penis (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Familial hypospadias of penis (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital alpha-2-antiplasmin deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
dilatation idiopathique familiale de l'oreillette droite survenue (attribut) True congénital Inferred relationship Some 1
Nanophthalmia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Proteus like syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital infection caused by enterovirus (disorder) survenue (attribut) True congénital Inferred relationship Some 1
spectre ostéolyse multicentrique-nodulose-arthropathie survenue (attribut) True congénital Inferred relationship Some 3
spectre ostéolyse multicentrique-nodulose-arthropathie survenue (attribut) False congénital Inferred relationship Some 4
spectre ostéolyse multicentrique-nodulose-arthropathie survenue (attribut) False congénital Inferred relationship Some 5
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Syndromic recessive X-linked ichthyosis (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Trisomy 17p (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Trisomy 17p (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Biliary atresia with splenic malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Biliary atresia with splenic malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Trisomy 10p (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Trisomy 10p (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Trisomy 10p (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Partial chromosome Y deletion (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Shprintzen Goldberg omphalocele syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Shprintzen Goldberg omphalocele syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 10
Lowry Yong syndrome survenue (attribut) False congénital Inferred relationship Some 9
rétinopathie rubéoleuse survenue (attribut) False congénital Inferred relationship Some 2
Central serous retinopathy with pit of optic disc survenue (attribut) False congénital Inferred relationship Some 3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Deafness with malformation of ear and facial palsy syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Nephronophthisis hepatic fibrosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Nephronophthisis hepatic fibrosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Familial digital arthropathy and brachydactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Caroli disease (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Isolated congenital alacrima (disorder) survenue (attribut) True congénital Inferred relationship Some 1
brachyolmie autosomique dominante survenue (attribut) False congénital Inferred relationship Some 3
Folinic acid responsive seizure syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody (disorder) survenue (attribut) True congénital Inferred relationship Some 1
hypothyroïdie congénitale idiopathique survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 8 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Syndromic hypoplasia of orbital border (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Syndromic hypoplasia of orbital border (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Koolen De Vries syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Koolen De Vries syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital plasminogen activator inhibitor deficiency type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Punctate palmoplantar keratoderma type 1 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital bilateral internal tibial torsion survenue (attribut) False congénital Inferred relationship Some 3
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital bilateral internal tibial torsion survenue (attribut) False congénital Inferred relationship Some 4
Congenital bilateral internal tibial torsion survenue (attribut) False congénital Inferred relationship Some 5
Harrod syndrome survenue (attribut) True congénital Inferred relationship Some 4
Harrod syndrome survenue (attribut) False congénital Inferred relationship Some 5
Harrod syndrome survenue (attribut) False congénital Inferred relationship Some 6
Harrod syndrome survenue (attribut) False congénital Inferred relationship Some 7
FRAXF syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked lissencephaly with abnormal genitalia syndrome survenue (attribut) False congénital Inferred relationship Some 3
X-linked lissencephaly with abnormal genitalia syndrome survenue (attribut) False congénital Inferred relationship Some 5
Distal monosomy 1q syndrome survenue (attribut) True congénital Inferred relationship Some 1
Chromosome 3q29 duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lissencephaly syndrome Norman Roberts type (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Recombinant chromosome 8 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital mandibular hyperplasia survenue (attribut) False congénital Inferred relationship Some 3
Congenital horizontal mandibular hyperplasia survenue (attribut) False congénital Inferred relationship Some 3
Congenital vertical mandibular hyperplasia survenue (attribut) False congénital Inferred relationship Some 3
Congenital transverse mandibular hyperplasia survenue (attribut) False congénital Inferred relationship Some 3
Lissencephaly syndrome Norman Roberts type (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Solitary aortic trunk with pulmonary atresia survenue (attribut) True congénital Inferred relationship Some 2
Solitary aortic trunk with pulmonary atresia survenue (attribut) False congénital Inferred relationship Some 4
Pulmonary atresia with confluent pulmonary arteries survenue (attribut) True congénital Inferred relationship Some 1
Congenital abnormality of iris and ciliary body survenue (attribut) False congénital Inferred relationship Some
hydronéphrose congénitale survenue (attribut) True congénital Inferred relationship Some 1
Truncal valve dysplasia survenue (attribut) False congénital Inferred relationship Some 2
Distal arthrogryposis type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Neurogenic arthrogryposis multiplex congenita (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Autosomal recessive primary microcephaly (disorder) survenue (attribut) True congénital Inferred relationship Some 1
anomalie morphologique congénitale du pied survenue (attribut) False congénital Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Congenital tubular duplication of esophagus (disorder) survenue (attribut) True congénital Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
3q29 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital rearfoot valgus survenue (attribut) False congénital Inferred relationship Some
Autosomal dominant centronuclear myopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1

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