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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
Polydactyly myopia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 7
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Microcephalus, digital anomaly, intellectual disability syndrome survenue (attribut) False congénital Inferred relationship Some 2
Microcephalus, digital anomaly, intellectual disability syndrome survenue (attribut) False congénital Inferred relationship Some 3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) True congénital Inferred relationship Some 5
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) False congénital Inferred relationship Some 7
Skeletal dysplasia brachydactyly syndrome survenue (attribut) True congénital Inferred relationship Some 2
Skeletal dysplasia brachydactyly syndrome survenue (attribut) False congénital Inferred relationship Some 3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Van den Bosch syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Van den Bosch syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Van den Bosch syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Congenital disorder of glycosylation type 1w (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital disorder of glycosylation type 1x survenue (attribut) True congénital Inferred relationship Some 1
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome survenue (attribut) True congénital Inferred relationship Some 3
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome survenue (attribut) True congénital Inferred relationship Some 4
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome survenue (attribut) True congénital Inferred relationship Some 5
Congenital disorder of glycosylation type 1y survenue (attribut) True congénital Inferred relationship Some 1
Aniridia, renal agenesis, psychomotor retardation syndrome survenue (attribut) True congénital Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome survenue (attribut) False congénital Inferred relationship Some 3
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Anomalous origin of right subclavian artery survenue (attribut) False congénital Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome survenue (attribut) True congénital Inferred relationship Some 2
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome survenue (attribut) False congénital Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 11
Acrocephalopolysyndactyly type IV (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Acrocephalopolysyndactyly type IV (disorder) survenue (attribut) False congénital Inferred relationship Some 4
syndrome de microduplication 16p11.2p12.2 survenue (attribut) True congénital Inferred relationship Some 1
17q12 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
17q12 microdeletion syndrome survenue (attribut) False congénital Inferred relationship Some 3
20q13.33 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
20q13.33 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Distal 16p11.2 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome survenue (attribut) False congénital Inferred relationship Some 3
Megalocornea with intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
Congenital epulis of newborn survenue (attribut) False congénital Inferred relationship Some
Congenital gingival granular cell tumor survenue (attribut) False congénital Inferred relationship Some
anomalie congénitale de la trachée survenue (attribut) False congénital Inferred relationship Some
Congenital absence of upper limb survenue (attribut) False congénital Inferred relationship Some
Diplomyelia survenue (attribut) False congénital Inferred relationship Some 2
Vestigial remnants of canal of Cloquet survenue (attribut) False congénital Inferred relationship Some
Myeloschisis survenue (attribut) True congénital Inferred relationship Some 3
Microstomia survenue (attribut) False congénital Inferred relationship Some
Late-infantile neuronal ceroid lipofuscinosis survenue (attribut) True congénital Inferred relationship Some 2
Uterus cordiformis survenue (attribut) False congénital Inferred relationship Some
tophus goutteux d'une oreille survenue (attribut) False congénital Inferred relationship Some
20q partial trisomy (disorder) survenue (attribut) False congénital Inferred relationship Some
Situs ambiguus survenue (attribut) True congénital Inferred relationship Some 1
Achondrogenesis, type IB survenue (attribut) False congénital Inferred relationship Some
Abdominal heart survenue (attribut) False congénital Inferred relationship Some
Congenital anomaly of large intestine survenue (attribut) False congénital Inferred relationship Some
Aarskog syndrome survenue (attribut) False congénital Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Excessively long umbilical cord survenue (attribut) False congénital Inferred relationship Some
Retinal dystrophy in systemic lipidosis survenue (attribut) True congénital Inferred relationship Some 2
Russell-Silver syndrome survenue (attribut) False congénital Inferred relationship Some
insuffisance congénitale de la valve pulmonaire survenue (attribut) False congénital Inferred relationship Some
Congenital stricture of bile duct survenue (attribut) False congénital Inferred relationship Some
Congenital transposition of stomach survenue (attribut) False congénital Inferred relationship Some
syndrome de Coffin-Lowry survenue (attribut) False congénital Inferred relationship Some
Congenital phlebectasia survenue (attribut) False congénital Inferred relationship Some
Origin of innominate artery from left side of aortic arch survenue (attribut) False congénital Inferred relationship Some
Isolated hereditary congenital facial paralysis (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Atrophia bulborum hereditaria survenue (attribut) False congénital Inferred relationship Some
Facial asymmetry survenue (attribut) False congénital Inferred relationship Some
Adenylosuccinate lyase deficiency survenue (attribut) False congénital Inferred relationship Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency survenue (attribut) False congénital Inferred relationship Some 1
syndrome de Dandy-Walker-polydactylie postaxiale survenue (attribut) False congénital Inferred relationship Some 9
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Congenital disorder of glycosylation type 1q (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Microcephalus, lymphedema, chorioretinopathy syndrome survenue (attribut) True congénital Inferred relationship Some 1
hypoalphalipoprotéinémie familiale survenue (attribut) True congénital Inferred relationship Some 1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Summitt syndrome survenue (attribut) False congénital Inferred relationship Some 3
Summitt syndrome survenue (attribut) False congénital Inferred relationship Some 4
Double kidney AND/OR pelvis survenue (attribut) False congénital Inferred relationship Some
Female Kallman's syndrome survenue (attribut) False congénital Inferred relationship Some
Central nervous system malformation in fetus affecting obstetrical care survenue (attribut) False congénital Inferred relationship Some
Congenital pyloric membrane survenue (attribut) False congénital Inferred relationship Some
Omphalocele with obstruction survenue (attribut) False congénital Inferred relationship Some
Corectopia survenue (attribut) False congénital Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Dementia with Down syndrome survenue (attribut) True congénital Inferred relationship Some 3
Deletion of part of long arm of chromosome 17 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital cyst of orbit (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Congenital dislocation of knee with genu recurvatum survenue (attribut) False congénital Inferred relationship Some
Endocardial cushion defect survenue (attribut) False congénital Inferred relationship Some
Citrullinemia survenue (attribut) False congénital Inferred relationship Some
Congenital duplication of uterus survenue (attribut) False congénital Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts survenue (attribut) False congénital Inferred relationship Some

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