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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
9q21.13 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 4
Lethal brain and heart developmental defects syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lethal brain and heart developmental defects syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Lethal brain and heart developmental defects syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
11q22.2q22.3 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
11q22.2q22.3 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
11q22.2q22.3 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 3
19p13.3 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
19p13.3 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
19p13.3 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
20q11.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
20q11.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
20q11.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
20q11.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
8q24.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
8q24.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
8q24.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
8q24.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Severe combined immunodeficiency due to CORO1A deficiency survenue (attribut) True congénital Inferred relationship Some 1
SIM1-related Prader-Willi-like syndrome survenue (attribut) True congénital Inferred relationship Some 1
SIM1-related Prader-Willi-like syndrome survenue (attribut) True congénital Inferred relationship Some 2
SIM1-related Prader-Willi-like syndrome survenue (attribut) True congénital Inferred relationship Some 3
MAGE family member L2-related Prader-Willi-like syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
MAGE family member L2-related Prader-Willi-like syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
MAGE family member L2-related Prader-Willi-like syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Heme oxygenase-1 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital dysplasia of supratip of nose (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Duane retraction syndrome with congenital deafness survenue (attribut) True congénital Inferred relationship Some 1
Duane retraction syndrome with congenital deafness survenue (attribut) True congénital Inferred relationship Some 2
Duane retraction syndrome with congenital deafness survenue (attribut) True congénital Inferred relationship Some 3
Familial congenital nasolacrimal duct obstruction (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital peripapillary staphyloma survenue (attribut) True congénital Inferred relationship Some 1
Congenital peripapillary staphyloma survenue (attribut) True congénital Inferred relationship Some 2
Congenital peripapillary staphyloma survenue (attribut) True congénital Inferred relationship Some 3
Frontorhiny (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Frontorhiny (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Complete septate uterus (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lethal acantholytic erosive disorder survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of lower limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital capsular cataract of left eye (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Right congenital capsular cataract survenue (attribut) True congénital Inferred relationship Some 1
Congenital capsular cataract of bilateral eyes (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital capsular cataract of bilateral eyes (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital combined form cataract of left eye (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital combined form cataract of right eye (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital atresia of inferior vena cava without azygos continuation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Isolated microspherophakia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Isolated microspherophakia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Phenylketonuria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Phenylketonuria due to tetrahydrobiopterin deficiency survenue (attribut) True congénital Inferred relationship Some 2
Timothy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Timothy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Atypical Timothy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Atypical Timothy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Femur fibula ulna complex survenue (attribut) True congénital Inferred relationship Some 1
Femur fibula ulna complex survenue (attribut) True congénital Inferred relationship Some 3
Situs inversus of optic disc survenue (attribut) True congénital Inferred relationship Some 1
Congenital corneal leucoma survenue (attribut) True congénital Inferred relationship Some 2
Congenital laryngotracheoesophageal cleft survenue (attribut) True congénital Inferred relationship Some 1
Congenital laryngotracheoesophageal cleft survenue (attribut) True congénital Inferred relationship Some 2
Laryngeal cleft type 0 survenue (attribut) True congénital Inferred relationship Some 2
Congenital cyst of nasolacrimal duct (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Exstrophy epispadias complex survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of upper limb survenue (attribut) True congénital Inferred relationship Some 1
Megaconial congenital muscular dystrophy survenue (attribut) True congénital Inferred relationship Some 1
Megaconial congenital muscular dystrophy survenue (attribut) True congénital Inferred relationship Some 2
Megaconial congenital muscular dystrophy survenue (attribut) True congénital Inferred relationship Some 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease survenue (attribut) True congénital Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) True congénital Inferred relationship Some 1
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) True congénital Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) True congénital Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) True congénital Inferred relationship Some 4
Microphthalmia, microtia, fetal akinesia syndrome survenue (attribut) True congénital Inferred relationship Some 5
Congenital deformity of hand (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital anomaly of upper limbs survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital anomaly of upper limbs survenue (attribut) True congénital Inferred relationship Some 2
Congenital anomaly of right upper limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital anomaly of left upper limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of shoulder (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of upper arm survenue (attribut) True congénital Inferred relationship Some 1
Mannosephosphate isomerase congenital disorder of glycosylation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital anomaly of second branchial cleft survenue (attribut) True congénital Inferred relationship Some 1
Congenital anomaly of second branchial cleft survenue (attribut) True congénital Inferred relationship Some 2
Congenital anomaly of third branchial cleft survenue (attribut) True congénital Inferred relationship Some 1
Congenital anomaly of third branchial cleft survenue (attribut) True congénital Inferred relationship Some 2
Congenital anomaly of fourth branchial cleft survenue (attribut) True congénital Inferred relationship Some 1
Congenital anomaly of fourth branchial cleft survenue (attribut) True congénital Inferred relationship Some 2

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