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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
Partial trisomy of chromosome 11 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 12 survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 13 survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 14 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 15 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 16 survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 17 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 18 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 19 survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of short arm of chromosome 19 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Partial trisomy of short arm of chromosome 19 (disorder) survenue (attribut) True congénital Inferred relationship Some 3
trisomie partielle du chromosome 20 survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 21 survenue (attribut) True congénital Inferred relationship Some 1
Partial trisomy of chromosome 22 survenue (attribut) True congénital Inferred relationship Some 1
Tetraploidy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Complete monosomy of autosome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of chromosome 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Uniparental disomy of maternal origin (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Uniparental disomy of paternal origin (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Dermatoleukodystrophy survenue (attribut) True congénital Inferred relationship Some 3
Camptobrachydactyly (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Camptobrachydactyly (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Camptobrachydactyly (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Hemifacial hyperplasia strabismus syndrome survenue (attribut) False congénital Inferred relationship Some 3
Hemifacial hyperplasia strabismus syndrome survenue (attribut) False congénital Inferred relationship Some 4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Dysmorphism, short stature, deafness, disorder of sex development syndrome survenue (attribut) False congénital Inferred relationship Some 3
Dysmorphism, short stature, deafness, disorder of sex development syndrome survenue (attribut) False congénital Inferred relationship Some 4
syndrome marfanoïde-déficience intellectuelle autosomique récessif survenue (attribut) False congénital Inferred relationship Some 3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome survenue (attribut) False congénital Inferred relationship Some 5
Myoclonus, cerebellar ataxia, deafness syndrome survenue (attribut) True congénital Inferred relationship Some 4
Myoclonus, cerebellar ataxia, deafness syndrome survenue (attribut) True congénital Inferred relationship Some 5
Trigonocephaly, short stature, developmental delay syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Deafness, vitiligo, achalasia syndrome survenue (attribut) True congénital Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome survenue (attribut) False congénital Inferred relationship Some 5
syndrome de Banki survenue (attribut) True congénital Inferred relationship Some 1
Thyrocerebrorenal syndrome survenue (attribut) True congénital Inferred relationship Some 4
Thyrocerebrorenal syndrome survenue (attribut) True congénital Inferred relationship Some 5
Thyrocerebrorenal syndrome survenue (attribut) True congénital Inferred relationship Some 7
ichtyose congénitale survenue (attribut) False congénital Inferred relationship Some
Platelet type pseudo-von Willebrand disease survenue (attribut) True congénital Inferred relationship Some 1
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome survenue (attribut) False congénital Inferred relationship Some 3
Hypospadias survenue (attribut) False congénital Inferred relationship Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 7
Methylcrotonyl-CoA carboxylase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Duplication of eyebrow and syndactyly syndrome survenue (attribut) True congénital Inferred relationship Some 3
Duplication of eyebrow and syndactyly syndrome survenue (attribut) False congénital Inferred relationship Some 4
Duplication of eyebrow and syndactyly syndrome survenue (attribut) False congénital Inferred relationship Some 5
Stimmler syndrome survenue (attribut) True congénital Inferred relationship Some 3
Stimmler syndrome survenue (attribut) True congénital Inferred relationship Some 4
Stimmler syndrome survenue (attribut) False congénital Inferred relationship Some 5
Congenital disorder of glycosylation type 1r (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital disorder of glycosylation type 1n (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital disorder of glycosylation type 1p survenue (attribut) True congénital Inferred relationship Some 1
Asexual dwarfism survenue (attribut) True congénital Inferred relationship Some 1
Platelet dense granule deficiency survenue (attribut) True congénital Inferred relationship Some 3
Autosomal recessive asexual dwarfism survenue (attribut) True congénital Inferred relationship Some 1
Nonfamilial asexual dwarfism survenue (attribut) True congénital Inferred relationship Some 1
Grey platelet syndrome survenue (attribut) True congénital Inferred relationship Some 3
X-linked asexual dwarfism (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hemoglobin M disease survenue (attribut) True congénital Inferred relationship Some 1
Platelet storage pool defect survenue (attribut) True congénital Inferred relationship Some 1
Mixed alpha granule and dense body deficiency survenue (attribut) True congénital Inferred relationship Some 3
Dense body defect survenue (attribut) True congénital Inferred relationship Some 3
White platelet syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Medich giant platelet syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) survenue (attribut) True congénital Inferred relationship Some 3
maladie cardiaque congénitale survenue (attribut) False congénital Inferred relationship Some
Triphalangeal thumb and dislocation of patella syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Triphalangeal thumb and dislocation of patella syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Camptodactyly taurinuria syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Hereditary anetoderma (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome survenue (attribut) False congénital Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome survenue (attribut) False congénital Inferred relationship Some 4
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 3
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 4
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome survenue (attribut) False congénital Inferred relationship Some 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
16p13.3 microduplication syndrome survenue (attribut) True congénital Inferred relationship Some 1
spondylolisthésis congénital survenue (attribut) False congénital Inferred relationship Some
Synechia vulvae survenue (attribut) False congénital Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome survenue (attribut) True congénital Inferred relationship Some 1
Spastic paraplegia, glaucoma, intellectual disability syndrome survenue (attribut) False congénital Inferred relationship Some 3
Spastic paraplegia, glaucoma, intellectual disability syndrome survenue (attribut) False congénital Inferred relationship Some 5
Ehlers-Danlos and osteogenesis imperfecta syndrome survenue (attribut) False congénital Inferred relationship Some 3
Ehlers-Danlos and osteogenesis imperfecta syndrome survenue (attribut) True congénital Inferred relationship Some 4
Distal myopathy with posterior leg and anterior hand involvement (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Distal myopathy with posterior leg and anterior hand involvement (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Distal myopathy with early respiratory muscle involvement (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Distal myopathy with early respiratory muscle involvement (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Carney complex (disorder) survenue (attribut) True congénital Inferred relationship Some 3

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