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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
Lysine intolerance survenue (attribut) False congénital Inferred relationship Some
Gastrothoracopagus dipygus survenue (attribut) False congénital Inferred relationship Some 5
Autositic twin of asymmetrical conjoined twins (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Autositic twin of asymmetrical conjoined twins (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Cephalodymus survenue (attribut) False congénital Inferred relationship Some 3
Acephaly survenue (attribut) True congénital Inferred relationship Some 1
Enamel spur survenue (attribut) False congénital Inferred relationship Some 2
Cephalodiprosopus survenue (attribut) False congénital Inferred relationship Some 2
Congenital complex varus foot deformity survenue (attribut) True congénital Inferred relationship Some 2
Acephalobrachius survenue (attribut) True congénital Inferred relationship Some 1
Congenital forefoot varus survenue (attribut) True congénital Inferred relationship Some 2
Congenital rearfoot varus survenue (attribut) True congénital Inferred relationship Some 2
Talipes equinovarus (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Fetal anencephaly (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Talipes equinocavovarus survenue (attribut) False congénital Inferred relationship Some 3
Microcephalic primordial dwarfism of Toriello type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Anencephaly without rachischisis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Polysomia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Polysomia (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Pericardial and diaphragmatic defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Pericardial and diaphragmatic defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Pericardial and diaphragmatic defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Pericardial and diaphragmatic defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Neuroectodermal endocrine syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Neuroectodermal endocrine syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Neuroectodermal melanolysosomal disease (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Neuroectodermal melanolysosomal disease (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital disorder of glycosylation type 1f (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Monosomy 9q22.3 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Monosomy 9q22.3 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome survenue (attribut) True congénital Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome survenue (attribut) False congénital Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome survenue (attribut) False congénital Inferred relationship Some 5
Microspherophakia with metaphyseal dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Microspherophakia with metaphyseal dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Carbohydrate deficient glycoprotein syndrome type 2a (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Embryofetopathy caused by methimazole (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 4
8q13 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
8q13 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
8q13 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Ligase 4 syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Keratin 14 related epidermolysis bullosa simplex (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Keratin 14 related epidermolysis bullosa simplex (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Kleefstra syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Keutel syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Keutel syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Keutel syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Keutel syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Palmoplantar keratoderma with clinodactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Palmoplantar keratoderma with clinodactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Palmoplantar keratoderma with clinodactyly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Congenital ichthyosis with hypotrichosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital ichthyosis with hypotrichosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) False congénital Inferred relationship Some 5
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) False congénital Inferred relationship Some 6
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) False congénital Inferred relationship Some 7
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) False congénital Inferred relationship Some 8
syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope survenue (attribut) False congénital Inferred relationship Some 9
Acute neuronopathic Gaucher's disease survenue (attribut) False congénital Inferred relationship Some 2
Hypoparathyroidism, deafness, renal disease syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 8
Hypoparathyroidism, deafness, renal disease syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 9
Hypoparathyroidism, deafness, renal disease syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 10
Hypoparathyroidism, deafness, renal disease syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 11
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Hypertelorism Teebi type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Hypertelorism Teebi type (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hereditary hyperekplexia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hepatic glycogen synthase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Hepatic glycogen synthase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Muscle and heart glycogen synthase deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Muscle and heart glycogen synthase deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Muscle and heart glycogen synthase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) survenue (attribut) True congénital Inferred relationship Some 1

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