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
Osteogenesis imperfecta, dominant perinatal lethal	Occurrence	False	Congenital	Inferred relationship	Some
Absent finger	Occurrence	False	Congenital	Inferred relationship	Some
Dipygus	Occurrence	False	Congenital	Inferred relationship	Some
celoskise	Occurrence	False	Congenital	Inferred relationship	Some
Macrodontia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of ear	Occurrence	False	Congenital	Inferred relationship	Some
Congenital supravalvular aortic stenosis	Occurrence	False	Congenital	Inferred relationship	Some
Maple syrup urine disease, multiple dehydrogenase form	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete trisomy 22 syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Accessory liver	Occurrence	False	Congenital	Inferred relationship	Some
Lysinuric protein intolerance, type 2	Occurrence	False	Congenital	Inferred relationship	Some
X-linked hydrocephalus syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Anophthalmos	Occurrence	False	Congenital	Inferred relationship	Some
Congenital contracted pelvis	Occurrence	False	Congenital	Inferred relationship	Some
SCID forårsaget af manglende klasse II HLA-antigener	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital anomaly of broad ligament	Occurrence	False	Congenital	Inferred relationship	Some
Congenital aplasia of inner ear	Occurrence	False	Congenital	Inferred relationship	Some
Aase syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Tuberous sclerosis syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Abnormal fetal duplication	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of nose	Occurrence	False	Congenital	Inferred relationship	Some
Long narrow head	Occurrence	False	Congenital	Inferred relationship	Some
Postductal coarctation of aorta	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypoplasia of cardiac vein	Occurrence	False	Congenital	Inferred relationship	Some
Inborn error of glutathione metabolism	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of larynx	Occurrence	False	Congenital	Inferred relationship	Some
Bicuspid aortic valve	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of diaphragm	Occurrence	False	Congenital	Inferred relationship	Some
Bilateral left-sidedness sequence	Occurrence	False	Congenital	Inferred relationship	Some
Niemann-Pick disease, type C, chronic form	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulphatase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Cervical rib	Occurrence	False	Congenital	Inferred relationship	Some
Hydroxymethylglutaryl-CoA lyase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	Occurrence	False	Congenital	Inferred relationship	Some	2
Uterus bicornis bicollis	Occurrence	False	Congenital	Inferred relationship	Some
Glycogen storage disease, type I	Occurrence	True	Congenital	Inferred relationship	Some	1
Isoleret xanthinoxidasemangel	Occurrence	False	Congenital	Inferred relationship	Some
Gronblad-Strandberg syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Vitamin D-dependent rickets, type 2	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital prognathism	Occurrence	False	Congenital	Inferred relationship	Some
Megaloappendix	Occurrence	False	Congenital	Inferred relationship	Some
Moore-Federman syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cystic disease of liver	Occurrence	False	Congenital	Inferred relationship	Some
Kynureninase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of epiglottis	Occurrence	False	Congenital	Inferred relationship	Some
Gastroschisis	Occurrence	False	Congenital	Inferred relationship	Some
Polyploidy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Thoracogenic scoliosis	Occurrence	False	Congenital	Inferred relationship	Some
10q partial trisomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Coarctation of aorta	Occurrence	False	Congenital	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I-S	Occurrence	True	Congenital	Inferred relationship	Some	1
Hunter's syndrome, severe form	Occurrence	True	Congenital	Inferred relationship	Some	1
Pena-Shokeirs fænotype	Occurrence	False	Congenital	Inferred relationship	Some
Accessory adrenal cortex	Occurrence	False	Congenital	Inferred relationship	Some
Mousepox	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit anomali i urinveje	Occurrence	False	Congenital	Inferred relationship	Some
Marshall-Smith syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of parathyroid gland	Occurrence	False	Congenital	Inferred relationship	Some
Hemimyelia	Occurrence	False	Congenital	Inferred relationship	Some	4
Niemann-Picks sygdom type E	Occurrence	False	Congenital	Inferred relationship	Some	1
Opocephalus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of germinal epithelium of testes	Occurrence	False	Congenital	Inferred relationship	Some
Adolescent postural kyphosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Occurrence	False	Congenital	Inferred relationship	Some
Congenital subaortic stenosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Occurrence	False	Congenital	Inferred relationship	Some
Double outlet left ventricle	Occurrence	False	Congenital	Inferred relationship	Some
Common arterial trunk and common origin of pulmonary arteries (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cutaneous angiomatosis	Occurrence	False	Congenital	Inferred relationship	Some
Cobalamin A disease	Occurrence	False	Congenital	Inferred relationship	Some
Voksen GM1-gangliosidose	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa with osteodystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Metabolic disease of collagen	Occurrence	False	Congenital	Inferred relationship	Some
Perinatal icterus som følge af galdepropsyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Chronic tophaceous gout	Occurrence	False	Congenital	Inferred relationship	Some
Congenital toxoplasmosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malposition of digestive organs	Occurrence	False	Congenital	Inferred relationship	Some
5p partial trisomy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of pituitary gland (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Isoleret dekstrokardi	Occurrence	False	Congenital	Inferred relationship	Some
Cerebellar hemangioblastomatosis	Occurrence	False	Congenital	Inferred relationship	Some
A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice.	Occurrence	False	Congenital	Inferred relationship	Some
Partial tetrasomy of chromosome 9 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Coronary artery arising from main pulmonary artery	Occurrence	False	Congenital	Inferred relationship	Some
Congenital scar	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of fibula	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary coproporphyria	Occurrence	False	Congenital	Inferred relationship	Some
Female infertility due to structural congenital anomaly of cervix (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Opodidymus	Occurrence	False	Congenital	Inferred relationship	Some
Woolf's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital disorder due to abnormality of chromosome number OR structure (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Complete trisomy 9 syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Micromelia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of aorta (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Manus flexa	Occurrence	False	Congenital	Inferred relationship	Some
XX males	Occurrence	False	Congenital	Inferred relationship	Some
Craniopagus	Occurrence	False	Congenital	Inferred relationship	Some
Kommerell's diverticulum	Occurrence	False	Congenital	Inferred relationship	Some
Diplopodia	Occurrence	False	Congenital	Inferred relationship	Some
Crossed renal ectopia	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)