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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
8p23.1 duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency survenue (attribut) True congénital Inferred relationship Some 1
Oculocutaneous albinism type 7 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Oculocutaneous albinism type 6 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
albinisme oculo-cutané type 2 (trouble) survenue (attribut) True congénital Inferred relationship Some 1
Kandori fleck retina syndrome survenue (attribut) False congénital Inferred relationship Some 1
Constriction ring syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Autosomal dominant oculocutaneous albinism survenue (attribut) False congénital Inferred relationship Some 1
X chromosome-linked pyridoxine refractory sideroblastic anemia survenue (attribut) True congénital Inferred relationship Some 3
Rufous albinism survenue (attribut) True congénital Inferred relationship Some 1
Microcephalus with albinism and digital anomaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Proximal 16p11.2 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hermansky-Pudlak syndrome survenue (attribut) True congénital Inferred relationship Some 1
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Oculocutaneous albinism type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Oculocutaneous albinism type 1 (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Oculocutaneous albinism type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Oculocutaneous albinism type 4 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Cross syndrome survenue (attribut) True congénital Inferred relationship Some 3
Temperature-sensitive oculocutaneous albinism survenue (attribut) True congénital Inferred relationship Some 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla survenue (attribut) True congénital Inferred relationship Some 2
X chromosome-linked sideroblastic anemia (disorder) survenue (attribut) True congénital Inferred relationship Some 3
anesthésie congénitale du nerf trijumeau survenue (attribut) True congénital Inferred relationship Some 2
Cross syndrome survenue (attribut) True congénital Inferred relationship Some 4
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Oro-facial digital syndrome type 11 (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla survenue (attribut) True congénital Inferred relationship Some 2
Oculocutaneous albinism type 5 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Oculocutaneous albinism type 7 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Oculocutaneous albinism type 6 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Microcephalus with albinism and digital anomaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Oculocutaneous albinism type 4 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Oro-facial digital syndrome type 11 (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla survenue (attribut) True congénital Inferred relationship Some 3
X-linked sideroblastic anemia with spinocerebellar ataxia survenue (attribut) True congénital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Microblepharia survenue (attribut) False congénital Inferred relationship Some
Microdactyly survenue (attribut) False congénital Inferred relationship Some
Multiple congenital cardiac defects survenue (attribut) False congénital Inferred relationship Some
Multiple intracardiac shunts survenue (attribut) False congénital Inferred relationship Some
Muscular ventricular septum defect survenue (attribut) False congénital Inferred relationship Some
Myxoid transformation of tricuspid valve survenue (attribut) False congénital Inferred relationship Some
Neoplasm of uncertain behavior of ectopic female breast tissue survenue (attribut) False congénital Inferred relationship Some
Neoplasm of uncertain behavior of ectopic male breast tissue survenue (attribut) False congénital Inferred relationship Some
Congenital deformity of left lower limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of right clavicle (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital deformity of lower limbs survenue (attribut) True congénital Inferred relationship Some 2
Bilateral congenital deformity of lower limbs survenue (attribut) True congénital Inferred relationship Some 1
Bilateral congenital deformity fingers survenue (attribut) True congénital Inferred relationship Some 2
Bilateral congenital deformity fingers survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of left clavicle (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of right finger survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of right upper limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital deformity of left finger survenue (attribut) True congénital Inferred relationship Some 1
Congenital absence of right hand survenue (attribut) True congénital Inferred relationship Some 1
Congenital bilateral short Achilles tendons (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital bilateral short Achilles tendons (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital deformity of right lower limb survenue (attribut) True congénital Inferred relationship Some 1
Carbamoyl-phosphate synthetase 1 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Congenital bilateral short Achilles tendons (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome de Waardenburg (trouble) survenue (attribut) True congénital Inferred relationship Some 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Familial glucocorticoid deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Adult type polycystic kidney disease type 2 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital arteriovenous malformation of right lower limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Adult type polycystic kidney disease type 1 survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant polycystic kidney disease in childhood survenue (attribut) True congénital Inferred relationship Some 1
polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse survenue (attribut) True congénital Inferred relationship Some 1
polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse survenue (attribut) True congénital Inferred relationship Some 3
polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse survenue (attribut) True congénital Inferred relationship Some 2
Congenital anomaly of cardiac chamber (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital arteriovenous malformation of left lower limb survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant polycystic kidney disease (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) survenue (attribut) True congénital Inferred relationship Some 2
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 3
syndrome d'anémie sidéroblastique congénitale, déficit immunitaire à cellules B-fièvre périodique, retard de développement survenue (attribut) True congénital Inferred relationship Some 2
Ring chromosome 5 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Ring chromosome 19 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Ring chromosome 2 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Ring chromosome 3 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
HIVEP2-related intellectual disability survenue (attribut) True congénital Inferred relationship Some 1
HIVEP2-related intellectual disability survenue (attribut) False congénital Inferred relationship Some 2

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