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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
Glycogen storage disease type IX (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Glycogen phosphorylase kinase deficiency, X-linked survenue (attribut) False congénital Inferred relationship Some 1
Glycogen phosphorylase kinase deficiency, autosomal recessive survenue (attribut) True congénital Inferred relationship Some 1
Cardiac glycogen phosphorylase kinase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Hepatic and muscle glycogen phosphorylase kinase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Hepatic glycogen phosphorylase kinase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Congenital stenosis of cardiac valve survenue (attribut) False congénital Inferred relationship Some
Congenital cleft of cardiac valve survenue (attribut) False congénital Inferred relationship Some
Dextrorotation of heart survenue (attribut) False congénital Inferred relationship Some
Levoatrial cardinal vein survenue (attribut) False congénital Inferred relationship Some
Persistent dorsal mesentery survenue (attribut) False congénital Inferred relationship Some
Mesonephric duct cyst survenue (attribut) False congénital Inferred relationship Some
Uterus bicornis unicollis with septate vagina survenue (attribut) False congénital Inferred relationship Some
Rudimentary uterus in male survenue (attribut) False congénital Inferred relationship Some
Spontaneous closure of ventricular septal defect (finding) survenue (attribut) False congénital Inferred relationship Some
Ventricular septal defect, repaired survenue (attribut) False congénital Inferred relationship Some
Hereditary methemoglobinemia, enzymatic type survenue (attribut) False congénital Inferred relationship Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Embryopathy caused by retinoid (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Cerebral gigantism jaw cysts syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Congenital muscular dystrophy Paradas type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Congenital muscular dystrophy Paradas type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Autosomal recessive faciodigitogenital syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Autosomal recessive faciodigitogenital syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Autosomal recessive faciodigitogenital syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Polydactyly of biphalangeal thumb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
antéversion congénitale du fémur (constatation) survenue (attribut) False congénital Inferred relationship Some
Disorder of cholesterol metabolism survenue (attribut) False congénital Inferred relationship Some
Uroporphyrinuria survenue (attribut) False congénital Inferred relationship Some
Coproporphyrinuria survenue (attribut) False congénital Inferred relationship Some
Protoporphyrinuria survenue (attribut) False congénital Inferred relationship Some
Tyrosinuria survenue (attribut) False congénital Inferred relationship Some
Congenital aplasia of lacrimal structure (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of L-lactate dehydrogenase survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of D-lactate dehydrogenase survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of L-lactate dehydrogenase (cytochrome) survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of xanthine oxidase survenue (attribut) False congénital Inferred relationship Some
Deficiency of butyryl-CoA dehydrogenase survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of acyl-CoA dehydrogenase survenue (attribut) False congénital Inferred relationship Some
Deficiency of pyrroline-2-carboxylate reductase survenue (attribut) False congénital Inferred relationship Some
Deficiency of pyrroline-5-carboxylate reductase survenue (attribut) False congénital Inferred relationship Some
Deficiency of dihydrofolate reductase survenue (attribut) False congénital Inferred relationship Some
Deficiency of cytochrome-b>5< reductase survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of NADPH-ferrihemoprotein reductase survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of NAPH cytochrome-c>2< reductase survenue (attribut) True congénital Inferred relationship Some 1
Distal muscular dystrophy with juvenile onset survenue (attribut) False congénital Inferred relationship Some 2
Distal myopathy 2 survenue (attribut) False congénital Inferred relationship Some 1
Carbohydrate deficient glycoprotein syndrome type 2d (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Bathing suit ichthyosis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of guanidinoacetate methyltransferase survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of acetyl-CoA acetyltransferase survenue (attribut) False congénital Inferred relationship Some
Congenital primary adrenocortical hypofunction survenue (attribut) False congénital Inferred relationship Some
Deficiency of AMP pyrophorylase survenue (attribut) False congénital Inferred relationship Some
Genetic recurrent myoglobinuria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital enterocyte heparan sulfate deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital duplication of rectum (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital macrognathism survenue (attribut) False congénital Inferred relationship Some
Congenital radial deviation of finger (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Longitudinal deficiency of metatarsal bone survenue (attribut) False congénital Inferred relationship Some
Autosomal dominant myoglobinuria (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Genochondromatosis type 2 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Infundibulopelvic stenosis multicystic kidney syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Intellectual disability Buenos Aires type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
McCune Albright syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
McCune Albright syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
McCune Albright syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées survenue (attribut) True congénital Inferred relationship Some 3
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées survenue (attribut) False congénital Inferred relationship Some 4
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées survenue (attribut) False congénital Inferred relationship Some 5
Myotonia congenita (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital sacral meningocele survenue (attribut) True congénital Inferred relationship Some 1
Neurofaciodigitorenal syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Neurofaciodigitorenal syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Neurofaciodigitorenal syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Hereditary hypercarotenemia and vitamin A deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
X-linked diffuse leiomyomatosis with Alport syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Distal myopathy Welander type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Distal myopathy Welander type (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Patent ductus arteriosus with left-to-right shunt survenue (attribut) False congénital Inferred relationship Some
Patent ductus arteriosus with right-to-left shunt survenue (attribut) False congénital Inferred relationship Some
Cutis marmorata (finding) survenue (attribut) False congénital Inferred relationship Some 2
Reticulate vascular nevus survenue (attribut) True congénital Inferred relationship Some 1
Nevus sanguineous survenue (attribut) True congénital Inferred relationship Some 1
Mixed haemangioma survenue (attribut) True congénital Inferred relationship Some 1
Congenital livedo reticularis survenue (attribut) True congénital Inferred relationship Some 1

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