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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
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pseudoarthrosis of limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Internasal dysostosis survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form survenue (attribut) True congénital Inferred relationship Some 3
Mitochondrial DNA depletion syndrome hepatocerebrorenal form survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome hepatocerebrorenal form survenue (attribut) True congénital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 71 survenue (attribut) False congénital Inferred relationship Some 1
Chondrodysplasia with joint dislocations gPAPP type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Maxillo-zygomatic dysostosis survenue (attribut) True congénital Inferred relationship Some 1
Dysplasia of eye survenue (attribut) True congénital Inferred relationship Some 1
10q22.3q23.3 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
10q22.3q23.3 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Familial congenital palsy of trochlear nerve (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hajdu-Cheney syndrome survenue (attribut) True congénital Inferred relationship Some 1
Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Male emopamil-binding protein disorder with neurological defect survenue (attribut) True congénital Inferred relationship Some 1
Male emopamil-binding protein disorder with neurological defect survenue (attribut) True congénital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 survenue (attribut) False congénital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 survenue (attribut) False congénital Inferred relationship Some 1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital atresia of coronary ostium survenue (attribut) True congénital Inferred relationship Some 1
Non-distal monosomy 12q survenue (attribut) True congénital Inferred relationship Some 1
Non-distal monosomy 12q survenue (attribut) True congénital Inferred relationship Some 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital primary hydronephrosis (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Regional odontodysplasia survenue (attribut) False congénital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia Isidor type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability and severe epilepsy survenue (attribut) True congénital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability and severe epilepsy survenue (attribut) True congénital Inferred relationship Some 2
Autosomal spastic paraplegia type 72 survenue (attribut) False congénital Inferred relationship Some 1
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Shell teeth survenue (attribut) True congénital Inferred relationship Some 1
Familial x-linked hypophosphatemic vitamin D refractory rickets survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 7p syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal monosomy 7p syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cerebellar cortical dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 3 (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 3 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Inherited congenital spastic tetraplegia survenue (attribut) True congénital Inferred relationship Some 2
Inherited congenital spastic tetraplegia survenue (attribut) True congénital Inferred relationship Some 1
Occipital pachygyria and polymicrogyria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Occipital pachygyria and polymicrogyria (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Lipoic acid synthetase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital stenosis of ostium of coronary artery (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Dermotrichic syndrome survenue (attribut) True congénital Inferred relationship Some 2
Dermotrichic syndrome survenue (attribut) True congénital Inferred relationship Some 1
Dermotrichic syndrome survenue (attribut) True congénital Inferred relationship Some 3
High bone mass osteogenesis imperfecta survenue (attribut) True congénital Inferred relationship Some 1
Spondylometaphyseal dysplasia A4 type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Maternal uniparental disomy of chromosome 21 survenue (attribut) True congénital Inferred relationship Some 1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Multisystemic smooth muscle dysfunction syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 10 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 10 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Otospondylomegaepiphyseal dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome survenue (attribut) True congénital Inferred relationship Some 1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome survenue (attribut) True congénital Inferred relationship Some 2
Pontine tegmental cap dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Haemoglobinopathy Toms River survenue (attribut) True congénital Inferred relationship Some 1
X-linked calvarial hyperostosis survenue (attribut) True congénital Inferred relationship Some 1
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Recessive mitochondrial ataxia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Osteomesopycnosis survenue (attribut) False congénital Inferred relationship Some 1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 3
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 2
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 1
Maternal uniparental disomy of chromosome 22 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Sphenoidal dysostosis survenue (attribut) True congénital Inferred relationship Some 1
Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Dobrow syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Extensor tendons of finger anomalies (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Renal caliceal diverticuli and deafness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Renal caliceal diverticuli and deafness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Thoracic dysplasia and hydrocephalus syndrome survenue (attribut) True congénital Inferred relationship Some 1
Thoracic dysplasia and hydrocephalus syndrome survenue (attribut) True congénital Inferred relationship Some 2
Harlequin ichthyosis survenue (attribut) True congénital Inferred relationship Some 3
Ichthyosis bullosa of Siemens survenue (attribut) True congénital Inferred relationship Some 3
Annular epidermolytic ichthyosis (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Localised bullous ichthyosiform erythroderma survenue (attribut) True congénital Inferred relationship Some 3
Richieri Costa-da Silva syndrome survenue (attribut) True congénital Inferred relationship Some 2
Richieri Costa-da Silva syndrome survenue (attribut) True congénital Inferred relationship Some 1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) survenue (attribut) True congénital Inferred relationship Some 2

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