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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
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts survenue (attribut) False congénital Inferred relationship Some
First arch syndrome survenue (attribut) False congénital Inferred relationship Some
Congenital absence of lobe of lung survenue (attribut) False congénital Inferred relationship Some
Congenital small renal papilla survenue (attribut) False congénital Inferred relationship Some
Congenital hypoplasia of renal papilla survenue (attribut) False congénital Inferred relationship Some
Encephalocele of orbit survenue (attribut) False congénital Inferred relationship Some
Congenital cleft thyroid cartilage survenue (attribut) False congénital Inferred relationship Some
Maxillary prognathism survenue (attribut) False congénital Inferred relationship Some
21q partial monosomy syndrome survenue (attribut) False congénital Inferred relationship Some
Congenital absence of vertebra survenue (attribut) False congénital Inferred relationship Some
Albinism survenue (attribut) False congénital Inferred relationship Some
Mucopolysaccharidosis, MPS-III-D survenue (attribut) True congénital Inferred relationship Some 1
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
46,XX disorder of sex development with anorectal anomalies syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Desmiognathus survenue (attribut) False congénital Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
48,XYYY syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Atypical Norrie disease due to monosomy Xp11.3 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Thoraco-abdominal enteric duplication (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of alpha-ketoglutarate dehydrogenase (disorder) survenue (attribut) True congénital Inferred relationship Some 1
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) survenue (attribut) True congénital Inferred relationship Some 1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) survenue (attribut) True congénital Inferred relationship Some 1
epidermolyse bulleuse dystrophique dominante acrale survenue (attribut) False congénital Inferred relationship Some 4
epidermolyse bulleuse dystrophique dominante acrale survenue (attribut) False congénital Inferred relationship Some 5
Glycogen storage disease, muscular form survenue (attribut) True congénital Inferred relationship Some 1
Severe steroid 21-hydroxylase deficiency survenue (attribut) False congénital Inferred relationship Some
Premature tooth eruption survenue (attribut) False congénital Inferred relationship Some
Congenital cerebellar hypoplasia survenue (attribut) False congénital Inferred relationship Some
Imperforate vagina survenue (attribut) False congénital Inferred relationship Some
Congenital generalized flexion contractures of lower limb joints survenue (attribut) False congénital Inferred relationship Some
Heterodymus survenue (attribut) False congénital Inferred relationship Some
10q partial monosomy (disorder) survenue (attribut) False congénital Inferred relationship Some
acidurie orotique héréditaire survenue (attribut) False congénital Inferred relationship Some
Malonic aciduria survenue (attribut) True congénital Inferred relationship Some 1
Malonyl-CoA decarboxylase deficiency survenue (attribut) False congénital Inferred relationship Some
hydronéphrose congénitale survenue (attribut) False congénital Inferred relationship Some
Congenital absence of pelvis and lower limb survenue (attribut) False congénital Inferred relationship Some
Absent pelvis and lower limb survenue (attribut) False congénital Inferred relationship Some
Coronary artery abnormality survenue (attribut) False congénital Inferred relationship Some
Congenital duodenal stenosis survenue (attribut) False congénital Inferred relationship Some
Cranial hydromeningocele survenue (attribut) False congénital Inferred relationship Some
Ectopic kidney survenue (attribut) False congénital Inferred relationship Some
Congenital absence of membranous labyrinth survenue (attribut) False congénital Inferred relationship Some
lipoïdose cérébrale survenue (attribut) True congénital Inferred relationship Some 1
Mesocardia survenue (attribut) False congénital Inferred relationship Some
Anomaly of chromosome pair 15 survenue (attribut) False congénital Inferred relationship Some
Congenital spade-like hand survenue (attribut) False congénital Inferred relationship Some
Talipomanus survenue (attribut) False congénital Inferred relationship Some
Congenital occlusion of ureter survenue (attribut) False congénital Inferred relationship Some
Fabry's disease survenue (attribut) True congénital Inferred relationship Some 2
Congenital absence of optic chiasma (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked absence of thyroxine-binding globulin survenue (attribut) True congénital Inferred relationship Some 1
Severe steroid 21-hydroxylase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Iodotyrosine deiodination defect survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant variant form of albumin survenue (attribut) True congénital Inferred relationship Some 1
Hereditary vitamin D dependency syndrome, type I survenue (attribut) False congénital Inferred relationship Some 1
défaut de transport des iodures survenue (attribut) True congénital Inferred relationship Some 1
anomalie du couplage des iodotyrosines survenue (attribut) True congénital Inferred relationship Some 1
néoplasie endocrine multiple de type 1 survenue (attribut) False congénital Inferred relationship Some 2
Inherited disorder of thyroid metabolism survenue (attribut) True congénital Inferred relationship Some 1
Familial adrenocortical hypoplasia survenue (attribut) True congénital Inferred relationship Some 1
X-linked reduction of thyroxine-binding globulin survenue (attribut) True congénital Inferred relationship Some 1
Thyroglobulin proteolysis defect survenue (attribut) True congénital Inferred relationship Some 1
Glucocorticoid deficiency with achalasia survenue (attribut) True congénital Inferred relationship Some 2
Hereditary vitamin D dependency syndrome type, II survenue (attribut) False congénital Inferred relationship Some 1
défaut de la réponse hormonale thyroïdienne survenue (attribut) True congénital Inferred relationship Some 1
anomalie d'oxydation des iodures survenue (attribut) True congénital Inferred relationship Some 1
X-linked excess of thyroxine-binding globulin (disorder) survenue (attribut) True congénital Inferred relationship Some 1
hypothyroïdie par défaut de synthèse des hormones thyroïdiennes survenue (attribut) True congénital Inferred relationship Some 1
Thyroxine transport defect (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Moderate steroid 21-hydroxylase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hereditary nephrogenic diabetes insipidus survenue (attribut) True congénital Inferred relationship Some 1
Hereditary nephrogenic diabetes insipidus survenue (attribut) True congénital Inferred relationship Some 2
Multiple endocrine neoplasia, type 3 survenue (attribut) False congénital Inferred relationship Some 2
Multiple endocrine neoplasia, type 3 survenue (attribut) False congénital Inferred relationship Some 3
Multiple endocrine neoplasia, type 2 survenue (attribut) False congénital Inferred relationship Some 2
Thyroglobulin synthesis defect survenue (attribut) True congénital Inferred relationship Some 1
Adrenoleukodystrophy survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant excess of transthyretin survenue (attribut) True congénital Inferred relationship Some 1
Pendred's syndrome survenue (attribut) True congénital Inferred relationship Some 1
Hereditary adrenal unresponsiveness to corticotropin survenue (attribut) True congénital Inferred relationship Some 1
X-linked variant form of thyroxine-binding globulin survenue (attribut) True congénital Inferred relationship Some 1
Hereditary vitamin D dependency syndrome survenue (attribut) False congénital Inferred relationship Some 1
Sotos' syndrome survenue (attribut) True congénital Inferred relationship Some 1
Thyroxine plasma membrane transport defect survenue (attribut) True congénital Inferred relationship Some 1
syndrome de Beckwith-Wiedemann survenue (attribut) False congénital Inferred relationship Some 5
Iodide peroxidase defect survenue (attribut) True congénital Inferred relationship Some 1
Pseudohypoaldosteronism, type 1, dominant form survenue (attribut) False congénital Inferred relationship Some 1
Pseudohypoaldosteronism, type 1, recessive form survenue (attribut) False congénital Inferred relationship Some 1
dysplasie olfactogénitale survenue (attribut) True congénital Inferred relationship Some 1
Refetoff syndrome survenue (attribut) True congénital Inferred relationship Some 1
Hypogonadism with prune belly syndrome survenue (attribut) True congénital Inferred relationship Some 1
Hypogonadism with prune belly syndrome survenue (attribut) True congénital Inferred relationship Some 2
Hypothyroidism due to iodide organification defect survenue (attribut) True congénital Inferred relationship Some 1
Thyroid hormone resistance syndrome survenue (attribut) True congénital Inferred relationship Some 1
Generalized thyroid hormone resistance survenue (attribut) True congénital Inferred relationship Some 1
D-2-hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 1

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