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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
Autosomal dominant centronuclear myopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
déficit congénital en alpha-foetoprotéine survenue (attribut) True congénital Inferred relationship Some 1
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Epidermolysis bullosa simplex with circinate migratory erythema (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital forefoot valgus survenue (attribut) False congénital Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia survenue (attribut) False congénital Inferred relationship Some 6
FRAXE intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Joubert syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Joubert syndrome with ocular defect (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Joubert syndrome with renal defect (disorder) survenue (attribut) False congénital Inferred relationship Some 2
hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique survenue (attribut) False congénital Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia Irapa type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Schisis association syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Enlarged parietal foramina (disorder) survenue (attribut) False congénital Inferred relationship Some 2
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency survenue (attribut) True congénital Inferred relationship Some 3
Piebaldism (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Fatal infantile cytochrome C oxidase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital dysplasia of cardiac valve (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Isolated right ventricular hypoplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital cardiac diverticulum (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Combined pituitary hormone deficiency genetic form (disorder) survenue (attribut) False congénital Inferred relationship Some
Familial thyroid dyshormonogenesis (disorder) survenue (attribut) False congénital Inferred relationship Some
8p inverted duplication deletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Peripheral resistance to thyroid hormone (disorder) survenue (attribut) False congénital Inferred relationship Some
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) survenue (attribut) False congénital Inferred relationship Some
Deficiency of monoamine oxidase A (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Partial defect of atrioventricular canal (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Partial defect of atrioventricular canal (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Wolf Hirschhorn syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Wolf Hirschhorn syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
syndrome de microdélétion 16p11.2 proximale survenue (attribut) True congénital Inferred relationship Some 1
Fetal iodine syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Epidermolysis bullosa simplex with pyloric atresia survenue (attribut) False congénital Inferred relationship Some 4
Congenital short bowel syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Absence deformity of leg and congenital cataract syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Absence deformity of leg and congenital cataract syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Tetraamelia with multiple malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Tetraamelia with multiple malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
diarrhée chronique associée à un déficit en glucoamylase survenue (attribut) True congénital Inferred relationship Some 4
Congenital suprabulbar paresis (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Autosomal recessive sideroblastic anemia (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Autosomal dominant popliteal pterygium syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Weill-Marchesani syndrome survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Defects of tubular bones and spine (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital retraction of eyelid (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Congenital retraction of eyelid (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Unilateral polymicrogyria (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Sonoda syndrome survenue (attribut) True congénital Inferred relationship Some 2
Sonoda syndrome survenue (attribut) False congénital Inferred relationship Some 3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Brachymegalodactyly survenue (attribut) True congénital Inferred relationship Some 1
ectromélie d'un membre supérieur survenue (attribut) True congénital Inferred relationship Some 1
Symbrachydactyly survenue (attribut) True congénital Inferred relationship Some 1
ectromélie (trouble) survenue (attribut) True congénital Inferred relationship Some 1
Longitudinal deficiency of radius AND ulna (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Brachydactyly syndrome type E survenue (attribut) True congénital Inferred relationship Some 1
Hemimelia of upper limb survenue (attribut) False congénital Inferred relationship Some 1
Acrodysostosis survenue (attribut) True congénital Inferred relationship Some 1
Acrodysostosis survenue (attribut) True congénital Inferred relationship Some 2
Micromelia survenue (attribut) False congénital Inferred relationship Some 4
Brachymetacarpia survenue (attribut) True congénital Inferred relationship Some 1
dysplasie acromicrique survenue (attribut) True congénital Inferred relationship Some 1
Synbrachydactyly of hand survenue (attribut) False congénital Inferred relationship Some 1
Brachydactyly syndrome type B (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Brachydactyly syndrome type C (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Symbrachydactyly of toe (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital shortening of upper arm survenue (attribut) False congénital Inferred relationship Some 2
Longitudinal deficiency of part of upper limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Longitudinal deficiency of part of limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Genetic recurrent myoglobinuria (disorder) survenue (attribut) False congénital Inferred relationship Some
méga-uretère primitif congénital survenue (attribut) True congénital Inferred relationship Some 1
Brachymelia of lower limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital dilatation of ureter (disorder) survenue (attribut) True congénital Inferred relationship Some 1
hypertriglycéridémie survenue (attribut) False congénital Inferred relationship Some
Familial median cleft of upper and lower lip (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Familial median cleft of upper and lower lip (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Familial median cleft of upper and lower lip (disorder) survenue (attribut) False congénital Inferred relationship Some 5
3C syndrome survenue (attribut) True congénital Inferred relationship Some 4
3C syndrome survenue (attribut) False congénital Inferred relationship Some 5
3C syndrome survenue (attribut) False congénital Inferred relationship Some 6
3C syndrome survenue (attribut) False congénital Inferred relationship Some 7
dysplasie acromésomélique type Maroteaux survenue (attribut) True congénital Inferred relationship Some 1
Bethlem myopathy (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Achalasia microcephaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Ablepharon macrostomia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Ablepharon macrostomia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 11
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 13

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