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
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Tarsal coalitions	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome pair 14	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of pectoral muscle	Occurrence	False	Congenital	Inferred relationship	Some
Byzanthine arch palate	Occurrence	False	Congenital	Inferred relationship	Some
Gouty tophus of heart	Occurrence	False	Congenital	Inferred relationship	Some
Congenital maxillary hypoplasia	Occurrence	False	Congenital	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Occurrence	False	Congenital	Inferred relationship	Some
Fumarylacetoacetase deficiency, acute type	Occurrence	False	Congenital	Inferred relationship	Some
Congenital macrocheilia	Occurrence	False	Congenital	Inferred relationship	Some
Bilateral congenital subluxation of hip	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of hip joint	Occurrence	False	Congenital	Inferred relationship	Some
Gilbert's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Dextrocardia	Occurrence	False	Congenital	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital syphilitic periostitis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hyperplasia of sebaceous glands of lip	Occurrence	False	Congenital	Inferred relationship	Some
True knot of umbilical cord	Occurrence	False	Congenital	Inferred relationship	Some
Maple syrup urine disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Acquired epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Pyloric atresia	Occurrence	False	Congenital	Inferred relationship	Some
VATER association	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of ankle joint	Occurrence	False	Congenital	Inferred relationship	Some
Pyle metaphyseal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Arnold-Chiari syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Mesenteric cyst	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pulmonary arteriovenous aneurysm	Occurrence	False	Congenital	Inferred relationship	Some
Postlaminektomikyfose	Occurrence	False	Congenital	Inferred relationship	Some
Jackson's membrane	Occurrence	False	Congenital	Inferred relationship	Some
Congenital lip pits	Occurrence	False	Congenital	Inferred relationship	Some
Intralobar bronchopulmonary sequestration	Occurrence	False	Congenital	Inferred relationship	Some
Congenital maxillary hyperplasia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hernia of bladder	Occurrence	False	Congenital	Inferred relationship	Some
Methylene THF reductase deficiency AND homocystinuria	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital vascular anomaly of eye	Occurrence	False	Congenital	Inferred relationship	Some
Fructose-biphosphatase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Inherited arthrogryposis	Occurrence	False	Congenital	Inferred relationship	Some
Intestinal lipofuscinosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Crigler-Najjar syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of nares	Occurrence	False	Congenital	Inferred relationship	Some
Uhl's disease	Occurrence	False	Congenital	Inferred relationship	Some
Methylmalonyl-CoA mutase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Visceral gout	Occurrence	False	Congenital	Inferred relationship	Some
Congenital capsular cataract	Occurrence	False	Congenital	Inferred relationship	Some
Geleophysic dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of coronary artery	Occurrence	False	Congenital	Inferred relationship	Some
Transient hyperphenylalaninemia	Occurrence	False	Congenital	Inferred relationship	Some
Keratosis palmaris et plantaris	Occurrence	False	Congenital	Inferred relationship	Some
Pyridoxinafhængighedssyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Congenital insufficiency of aortic valve	Occurrence	False	Congenital	Inferred relationship	Some
Metaphyseal chondrodysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duplication of colon	Occurrence	False	Congenital	Inferred relationship	Some
adult polycystisk nyresygdom	Occurrence	False	Congenital	Inferred relationship	Some
Trigonocephaly	Occurrence	False	Congenital	Inferred relationship	Some
Polycystic kidney disease, infantile type	Occurrence	False	Congenital	Inferred relationship	Some
Resolving infantile idiopathic scoliosis	Occurrence	False	Congenital	Inferred relationship	Some
Gastric atresia	Occurrence	False	Congenital	Inferred relationship	Some
Weill-Marchesani syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of sulphur-bearing amino acid metabolism	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome pair 10	Occurrence	False	Congenital	Inferred relationship	Some
Umbilical cord of intertwined twins	Occurrence	False	Congenital	Inferred relationship	Some
Glutaric aciduria	Occurrence	False	Congenital	Inferred relationship	Some
Melnick-Fraser syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Bilobed right lung	Occurrence	False	Congenital	Inferred relationship	Some
Venous anomaly of umbilical cord	Occurrence	False	Congenital	Inferred relationship	Some
Meckel-Gruber syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of porphyrin metabolism	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of small intestine	Occurrence	False	Congenital	Inferred relationship	Some
Schwartz-Jampel syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Ectromelia of upper limb	Occurrence	False	Congenital	Inferred relationship	Some
Metaphyseal chondrodysplasia, Schmid type	Occurrence	False	Congenital	Inferred relationship	Some
13q partial monosomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Camptodactyly	Occurrence	False	Congenital	Inferred relationship	Some
Chronic granulomatous disease, type I	Occurrence	False	Congenital	Inferred relationship	Some
Glycogen storage disease, type VI	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniolacunia	Occurrence	False	Congenital	Inferred relationship	Some
Notomelus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of ejaculatory duct	Occurrence	False	Congenital	Inferred relationship	Some
Thanatophoric dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Abnormal number of cardiac valve cusps (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
8q partial monosomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Accessory tragus of ear	Occurrence	False	Congenital	Inferred relationship	Some
Klippels sygdom	Occurrence	False	Congenital	Inferred relationship	Some
Peg-shaped teeth	Occurrence	False	Congenital	Inferred relationship	Some
Longitudinal deficiency of tarsal bone	Occurrence	False	Congenital	Inferred relationship	Some
Congenital total cataract	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of pharynx	Occurrence	False	Congenital	Inferred relationship	Some
Glycogen storage disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital adhesions of peritoneum	Occurrence	False	Congenital	Inferred relationship	Some
Congenital alopecia	Occurrence	False	Congenital	Inferred relationship	Some
Combined molybdoflavoprotein enzyme deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Darwin's tubercle	Occurrence	False	Congenital	Inferred relationship	Some
Paraumbilical hernia	Occurrence	False	Congenital	Inferred relationship	Some
Dihydrolipoamide dehydrogenase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital insufficiency of mitral valve	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous pulmonary venous drainage to coronary sinus	Occurrence	False	Congenital	Inferred relationship	Some
Extralobar bronchopulmonary sequestration	Occurrence	False	Congenital	Inferred relationship	Some
Myelatelia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malrotation of intestine	Occurrence	False	Congenital	Inferred relationship	Some
Mibellis porokeratose, dissemineret superficiel type	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)