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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
Duplication of part of long arm of chromosome 16 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal trisomy 16q (disorder) survenue (attribut) True congénital Inferred relationship Some 2
2q24 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
2q31.1 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
2q32q33 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
2p15p16.1 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
2p21 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of short arm of chromosome 2 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mutilating keratoderma survenue (attribut) True congénital Inferred relationship Some 5
Natal teeth (disorder) survenue (attribut) True congénital Inferred relationship Some 1
tétrasomie 12p (trouble) survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 8 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Congenital mixed conductive and sensorineural hearing loss survenue (attribut) True congénital Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism survenue (attribut) True congénital Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism survenue (attribut) True congénital Inferred relationship Some 2
Nonfenestrated interatrial communication within oval fossa (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Dyshormonogenetic goiter AND iodide leak survenue (attribut) True congénital Inferred relationship Some 1
Familial dyshormonogenetic goitre survenue (attribut) True congénital Inferred relationship Some 1
Dyshormonogenic goitre survenue (attribut) True congénital Inferred relationship Some 1
X-linked oligodontia (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Camptodactyly of finger (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital faecal incontinence survenue (attribut) True congénital Inferred relationship Some 1
Hereditary congenital prekallikrein deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Split spinal cord malformation type I (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Split spinal cord malformation type I (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Split spinal cord malformation type I (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient survenue (attribut) True congénital Inferred relationship Some 4
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Mayer Rokitansky Küster Hauser syndrome type 1 survenue (attribut) True congénital Inferred relationship Some 1
Mayer Rokitansky Küster Hauser syndrome type 1 survenue (attribut) True congénital Inferred relationship Some 2
Mayer Rokitansky Küster Hauser syndrome type 1 survenue (attribut) True congénital Inferred relationship Some 3
Symphalangism Cushing type survenue (attribut) True congénital Inferred relationship Some 1
XK aprosencephaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital instability of bilateral hip joints (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital instability of bilateral hip joints (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital accessory tissue of tricuspid valve survenue (attribut) True congénital Inferred relationship Some 1
Glycogen storage disease due to muscle beta-enolase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Fibrous skin tumour of tuberous sclerosis survenue (attribut) True congénital Inferred relationship Some 6
Hydrocephalus with anomaly of aqueduct of Sylvius survenue (attribut) True congénital Inferred relationship Some 3
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
N syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital infection caused by Lymphocytic choriomeningitis virus survenue (attribut) True congénital Inferred relationship Some 2
Generalized peeling skin syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Hereditary skin peeling syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Acral peeling skin syndrome survenue (attribut) True congénital Inferred relationship Some 1
Non syndromic dextrocardia survenue (attribut) True congénital Inferred relationship Some 1
Non syndromic camptodactyly of fingers (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Agenesis of cervical vertebra survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of bone of forearm (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
MARCH syndrome survenue (attribut) True congénital Inferred relationship Some 1
MARCH syndrome survenue (attribut) True congénital Inferred relationship Some 2
Tall stature, intellectual disability, renal anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 1
Overgrowth syndrome with 2q37 translocation survenue (attribut) True congénital Inferred relationship Some 1
Overgrowth syndrome with 2q37 translocation survenue (attribut) True congénital Inferred relationship Some 2
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Albinism with deafness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
dysplasie cranio-fronto-nasale survenue (attribut) True congénital Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome survenue (attribut) True congénital Inferred relationship Some 1
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome survenue (attribut) True congénital Inferred relationship Some 3
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome survenue (attribut) True congénital Inferred relationship Some 4
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome survenue (attribut) False congénital Inferred relationship Some 1
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome survenue (attribut) False congénital Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 1
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 4
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 1
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 5
RERE-related neurodevelopmental syndrome survenue (attribut) True congénital Inferred relationship Some 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Early-onset epilepsy, intellectual disability, brain anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 1
TBCK-related intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 76 (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
SIX homeobox 2-related frontonasal dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
SIX homeobox 2-related frontonasal dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome survenue (attribut) True congénital Inferred relationship Some 1
Split-foot malformation, mesoaxial polydactyly syndrome survenue (attribut) True congénital Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome survenue (attribut) True congénital Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome survenue (attribut) True congénital Inferred relationship Some 4
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1

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