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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
Mowat-Wilson syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Mowat-Wilson syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Haddad syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 10
syndrome de maladie de Hirschsprung-brachydactylie type D survenue (attribut) False congénital Inferred relationship Some 9
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) survenue (attribut) False congénital Inferred relationship Some 11
Hirschsprung disease of rectosigmoid region (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Hirschsprung disease of rectosigmoid region (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Extensive aganglionosis Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Extensive aganglionosis Hirschsprung disease (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Immature ganglionosis of large intestine (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Immature ganglionosis of large intestine (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Congenital hypoganglionosis of large intestine (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Congenital hypoganglionosis of large intestine (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Congenital pulmonary hypoplasia due to lung space occupying lesion (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Aplasia of optic nerve (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital atrophy of optic nerve (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Aganglionosis of large intestine (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital dysgenetic ptosis survenue (attribut) False congénital Inferred relationship Some
Congenital developmental anomaly of cystic duct (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Megalopapilla (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Basal epidermolysis bullosa simplex (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Basal epidermolysis bullosa simplex (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Lumbosacral agenesis survenue (attribut) True congénital Inferred relationship Some 2
Coloboma of choroid survenue (attribut) False congénital Inferred relationship Some 3
Congenital chorioretinal coloboma of right eye (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital chorioretinal coloboma of left eye (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital chorioretinal coloboma of bilateral eyes (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Congenital chorioretinal coloboma of bilateral eyes (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Ethylmalonic encephalopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Epidermolysis bullosa simplex with muscular dystrophy (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Epidermolysis bullosa simplex with muscular dystrophy (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Endocrine-cerebro-osteodysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Endocrine-cerebro-osteodysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Endocrine-cerebro-osteodysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Endocrine-cerebro-osteodysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Isodicentric chromosome 15 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle survenue (attribut) False congénital Inferred relationship Some 9
syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle survenue (attribut) False congénital Inferred relationship Some 10
Familial multiple fibrofolliculoma (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Familial multiple fibrofolliculoma (disorder) survenue (attribut) False congénital Inferred relationship Some 3
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale survenue (attribut) False congénital Inferred relationship Some 4
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale survenue (attribut) False congénital Inferred relationship Some 5
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale survenue (attribut) False congénital Inferred relationship Some 6
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale survenue (attribut) False congénital Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Congenital absence of ovary survenue (attribut) False congénital Inferred relationship Some
Micromelia survenue (attribut) True congénital Inferred relationship Some 1
Kozlowski spondylometaphyseal dysplasia survenue (attribut) False congénital Inferred relationship Some 2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Microlissencephaly micromelia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Microlissencephaly micromelia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Microlissencephaly micromelia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Pili torti onychodysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Ramos Arroyo syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Thiamine-responsive encephalopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome de dysplasie osseuse terminale-défauts de pigmentation survenue (attribut) False congénital Inferred relationship Some 3
syndrome de dysplasie osseuse terminale-défauts de pigmentation survenue (attribut) False congénital Inferred relationship Some 4
syndrome de dysplasie osseuse terminale-défauts de pigmentation survenue (attribut) False congénital Inferred relationship Some 5
Tangier disease (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Stern Lubinsky Durrie syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Stern Lubinsky Durrie syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Stern Lubinsky Durrie syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Saethre-Chotzen syndrome survenue (attribut) True congénital Inferred relationship Some 1
Tryptophanuria with dwarfism survenue (attribut) False congénital Inferred relationship Some
Solitary multilocular renal cyst survenue (attribut) True congénital Inferred relationship Some 1
ectasie canaliculaire précalicielle survenue (attribut) True congénital Inferred relationship Some 1
Medullary sponge kidney with nephrocalcinosis survenue (attribut) True congénital Inferred relationship Some 1
Medullary sponge kidney without nephrocalcinosis survenue (attribut) True congénital Inferred relationship Some 1
Fibrocystic kidney disease survenue (attribut) True congénital Inferred relationship Some 1
Simpson-Golabi-Behmel syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bilateral medullary sponge kidney (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) survenue (attribut) False congénital Inferred relationship Some 3

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