255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital	Is a	Periods of life	false	Inferred relationship	Some
Congenital	Is a	Fetal and/or neonatal period	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Weber-Cockayne syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital urethral valve	Occurrence	False	Congenital	Inferred relationship	Some
Duodenal web	Occurrence	False	Congenital	Inferred relationship	Some
Macrodactyly of hand	Occurrence	False	Congenital	Inferred relationship	Some
Congenital abnormality of ductus arteriosus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital abnormality of vein	Occurrence	False	Congenital	Inferred relationship	Some
Maternal phenylketonuria	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of creatine synthesis	Occurrence	True	Congenital	Inferred relationship	Some	1
3-Methylglutaconic aciduria type 2	Occurrence	False	Congenital	Inferred relationship	Some
3-Methylglutaconic aciduria type 3	Occurrence	False	Congenital	Inferred relationship	Some
3-Methylglutaconic aciduria type 4	Occurrence	False	Congenital	Inferred relationship	Some
Unclassified 3-methylglutaconic aciduria	Occurrence	False	Congenital	Inferred relationship	Some
glycogenphosphorylasekinasemangel, X-bundet	Occurrence	False	Congenital	Inferred relationship	Some
Glycogen phosphorylase kinase deficiency, autosomal recessive	Occurrence	False	Congenital	Inferred relationship	Some
Cardiac glycogen phosphorylase kinase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Hepatic and muscle glycogen phosphorylase kinase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Hepatic glycogen phosphorylase kinase deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Retrosternal thyroid gland	Occurrence	False	Congenital	Inferred relationship	Some
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Occurrence	False	Congenital	Inferred relationship	Some
Familial multiple lipoprotein-type hyperlipidaemia	Occurrence	False	Congenital	Inferred relationship	Some
Reducible umbilical hernia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital abnormality of iris and ciliary body	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of foot	Occurrence	False	Congenital	Inferred relationship	Some
Congenital rearfoot valgus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital forefoot valgus	Occurrence	False	Congenital	Inferred relationship	Some
Hypertriglyceridaemia	Occurrence	False	Congenital	Inferred relationship	Some
Mid-esophageal traction diverticulum	Occurrence	False	Congenital	Inferred relationship	Some
Abnormal number of pulmonary valve cusps	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit komplet hjerteblok	Occurrence	False	Congenital	Inferred relationship	Some
Manglende blodkar i navlesnoren	Occurrence	False	Congenital	Inferred relationship	Some
Accessory salivary gland or duct	Occurrence	False	Congenital	Inferred relationship	Some
Congenital broncho-esophageal fistula without atresia	Occurrence	False	Congenital	Inferred relationship	Some
kongenit manglende tyktarm, atresi og stenose af tyktarmen	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit megacolon, ikke aganglionær	Occurrence	False	Congenital	Inferred relationship	Some
Congenital fistula of rectum and anus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Embryonic cyst of fallopian tube	Occurrence	False	Congenital	Inferred relationship	Some
Congenital extension contracture of the knee	Occurrence	False	Congenital	Inferred relationship	Some
Transverse deficiency of hand	Occurrence	False	Congenital	Inferred relationship	Some
Transverse arrest metacarpal second to fifth rays	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of multiple toes	Occurrence	False	Congenital	Inferred relationship	Some
Duplication of lower limb	Occurrence	False	Congenital	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary splenic hypoplasia	Occurrence	False	Congenital	Inferred relationship	Some
Paratubal cyst arising in mesonephric duct	Occurrence	False	Congenital	Inferred relationship	Some
Non-ketotic hyperglycinemia H protein deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Non-ketotic hyperglycinaemia L protein deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency pccA complementation group	Occurrence	True	Congenital	Inferred relationship	Some	1
Propionyl-CoA carboxylase deficiency pccBC complementation group	Occurrence	True	Congenital	Inferred relationship	Some	1
Disorder of serine metabolism	Occurrence	False	Congenital	Inferred relationship	Some
3-Phosphoglycerate dehydrogenase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Thyroglossal duct anomaly	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of the urinary tract proper (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Lysinuric protein intolerance	Occurrence	False	Congenital	Inferred relationship	Some
unilateral læbespalte	Occurrence	False	Congenital	Inferred relationship	Some
Bilateral cleft lip	Occurrence	False	Congenital	Inferred relationship	Some
Metafyseal kondrodysplasi, McKusick-type, med associeret immundefekt	Occurrence	False	Congenital	Inferred relationship	Some
Variant Creutzfeldt-Jakob disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Laryngeal cleft type I	Occurrence	False	Congenital	Inferred relationship	Some
Laryngeal cleft type II	Occurrence	False	Congenital	Inferred relationship	Some
Laryngeal cleft type III	Occurrence	False	Congenital	Inferred relationship	Some
Laryngeal cleft type IV	Occurrence	False	Congenital	Inferred relationship	Some
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Combined long chain hydroxyacyl-CoA dehydrogenase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Enoyl-CoA hydratase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
3-Ketoacyl-CoA triolase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital agenesis of brainstem nuclei	Occurrence	False	Congenital	Inferred relationship	Some
Leukodystrofi uden kendt biokemisk grundlag	Occurrence	False	Congenital	Inferred relationship	Some
Congenital nystagmus with sensory abnormality	Occurrence	False	Congenital	Inferred relationship	Some
Congenital nystagmus without sensory abnormality	Occurrence	False	Congenital	Inferred relationship	Some
Brachydactyly of hand (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Synbrakydaktyli i hånd	Occurrence	False	Congenital	Inferred relationship	Some
Brachyphalangia of toe	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit total alopeci	Occurrence	False	Congenital	Inferred relationship	Some
Aberrant retro-esophageal subclavian artery causing dysphagia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital penoscrotal transposition	Occurrence	False	Congenital	Inferred relationship	Some
Netherton syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Thoracic aorta abnormality (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Alpha-2-antitrypsin deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Multipel epifyseal dysplasia tarda, type 3a	Occurrence	False	Congenital	Inferred relationship	Some
Strangulated paraumbilical hernia	Occurrence	False	Congenital	Inferred relationship	Some
Persistent hyperplastic primary vitreous	Occurrence	False	Congenital	Inferred relationship	Some
Ornithinemia with gyrate atrophy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital myogenic ptosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital conduction defect	Occurrence	False	Congenital	Inferred relationship	Some
Congenital dysgenetic ptosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of ovary	Occurrence	False	Congenital	Inferred relationship	Some
Tryptophanuria with dwarfism	Occurrence	False	Congenital	Inferred relationship	Some
citrullinæmi, type med sen start	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stenosis of larynx	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypoplasia of ascending aorta	Occurrence	False	Congenital	Inferred relationship	Some
Congenital rectocloacal fistula	Occurrence	False	Congenital	Inferred relationship	Some
umbilikalhernie med obstruktion, men uden gangræn	Occurrence	False	Congenital	Inferred relationship	Some
Gingival cysts of infant	Occurrence	False	Congenital	Inferred relationship	Some
Cleft upper lip, upper jaw AND palate	Occurrence	False	Congenital	Inferred relationship	Some
Cheilognathouranoschisis	Occurrence	False	Congenital	Inferred relationship	Some
Keilognatopalatoskise	Occurrence	False	Congenital	Inferred relationship	Some
Lysine intolerance	Occurrence	False	Congenital	Inferred relationship	Some
The acute neurological form of Gaucher with characteristics of early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. The disease usually presents in infants aged 3 to 6 months with systemic manifestations of hepatosplenomegaly and an early onset and severe neurological syndrome. This is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that codes for the lysosomal enzyme, glucocerebrosidase. The deficiency in glucocerebrosidase leads to the accumulation of glucosylceramidase (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, of the spleen and the bone marrow (Gaucher cells). Transmission is autosomal recessive.	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital absence of sternum	Occurrence	False	Congenital	Inferred relationship	Some
Periodic hyperlysinaemia	Occurrence	False	Congenital	Inferred relationship	Some
Periodic hyperlysinaemia with hyperammonaemia	Occurrence	False	Congenital	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
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
646433016	Congenital (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)