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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
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 13
X-linked intellectual disability Atkin type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked endothelial dystrophy of cornea (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 7 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 7 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 6 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 6 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 5 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 5 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 4 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 4 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 3 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 3 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 1 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital pontocerebellar hypoplasia type 8 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 8 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
8q21.11 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
8q21.11 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Atrichia with papular lesions (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Abruzzo Erickson syndrome survenue (attribut) False congénital Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 12
Annular epidermolytic ichthyosis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mammary digital nail syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Mammary digital nail syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Oro-facial digital syndrome type 9 (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Oro-facial digital syndrome type 9 (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Oro-facial digital syndrome type 9 (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Oro-facial digital syndrome type 9 (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Oro-facial digital syndrome type 9 (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Oro-facial digital syndrome type 11 (disorder) survenue (attribut) True congénital Inferred relationship Some 8
Oro-facial digital syndrome type 11 (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Oro-facial digital syndrome type 11 (disorder) survenue (attribut) False congénital Inferred relationship Some 10
Oro-facial digital syndrome type 11 (disorder) survenue (attribut) False congénital Inferred relationship Some 11
Oro-facial digital syndrome type 11 (disorder) survenue (attribut) False congénital Inferred relationship Some 12
Distal monosomy 10q syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal monosomy 10q syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Distal monosomy 6p (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Distal monosomy 6p (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Distal trisomy 10q (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to absence of thyroid gland (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Isolated cryptophthalmos (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Carbohydrate deficient glycoprotein syndrome type 1m (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Congenital analbuminemia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mid-esophageal traction diverticulum survenue (attribut) False congénital Inferred relationship Some
Abnormal number of pulmonary valve cusps survenue (attribut) False congénital Inferred relationship Some
Congenital complete heart block survenue (attribut) False congénital Inferred relationship Some
Absent blood vessel in umbilical cord survenue (attribut) False congénital Inferred relationship Some
Accessory salivary gland or duct survenue (attribut) False congénital Inferred relationship Some
Congenital broncho-esophageal fistula without atresia survenue (attribut) False congénital Inferred relationship Some
Congenital absence, atresia and stenosis of large intestine survenue (attribut) False congénital Inferred relationship Some
Congenital macrocolon, not aganglionic survenue (attribut) False congénital Inferred relationship Some
Mammary digital nail syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Congenital fistula of rectum and anus survenue (attribut) False congénital Inferred relationship Some
Embryonic cyst of fallopian tube survenue (attribut) False congénital Inferred relationship Some
Congenital extension contracture of the knee survenue (attribut) False congénital Inferred relationship Some
Transverse deficiency of hand survenue (attribut) False congénital Inferred relationship Some
Transverse arrest metacarpal second to fifth rays survenue (attribut) False congénital Inferred relationship Some
Congenital absence of multiple toes survenue (attribut) False congénital Inferred relationship Some
Duplication of lower limb survenue (attribut) False congénital Inferred relationship Some
Mosaicism 45, X; 46, XX survenue (attribut) False congénital Inferred relationship Some
Hereditary splenic hypoplasia survenue (attribut) False congénital Inferred relationship Some
Paratubal cyst arising in mesonephric duct survenue (attribut) False congénital Inferred relationship Some
Non-ketotic hyperglycinemia H protein deficiency survenue (attribut) False congénital Inferred relationship Some
Non-ketotic hyperglycinaemia L protein deficiency survenue (attribut) False congénital Inferred relationship Some
Propionyl-coenzyme A carboxylase deficiency pccA complementation group (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Propionyl-coenzyme A carboxylase deficiency pccBC complementation group (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Disorder of serine metabolism survenue (attribut) False congénital Inferred relationship Some
3-Phosphoglycerate dehydrogenase deficiency survenue (attribut) False congénital Inferred relationship Some
Thyroglossal duct anomaly survenue (attribut) False congénital Inferred relationship Some
dystrophie musculaire des ceintures autosomique dominante type 1B survenue (attribut) False congénital Inferred relationship Some 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Spondyloepiphyseal dysplasia Reardon type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Epithelio-exfoliative colitis and deafness syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Cataract glaucoma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Cataract glaucoma syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Zellweger-like syndrome without peroxisomal anomaly (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Chromosome Xq27.3q28 duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked severe congenital neutropenia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Seemanova type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Syndromic X-linked intellectual disability type 11 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Siderius type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Stevenson type (disorder) survenue (attribut) True congénital Inferred relationship Some 2
X-linked intellectual disability Stevenson type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
X-linked intellectual disability Stocco Dos Santos type (disorder) survenue (attribut) True congénital Inferred relationship Some 1

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