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
7q partial trisomy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital coxa valga	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary spherocytosis due to deficiency of protein 4.2	Occurrence	False	Congenital	Inferred relationship	Some
Nievergelt's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Hyperornithinemia	Occurrence	False	Congenital	Inferred relationship	Some
Ectopic parotid gland tissue	Occurrence	False	Congenital	Inferred relationship	Some
Syndactyly of fingers	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of hand (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Fraser syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital perforation of wall of nasal sinus	Occurrence	False	Congenital	Inferred relationship	Some
Familial type 5 hyperlipoproteinemia	Occurrence	False	Congenital	Inferred relationship	Some
Patent urachus	Occurrence	False	Congenital	Inferred relationship	Some
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Storage disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital duplication of vagina	Occurrence	False	Congenital	Inferred relationship	Some
Dimelia	Occurrence	False	Congenital	Inferred relationship	Some
Mandibular retrognathism	Occurrence	False	Congenital	Inferred relationship	Some
Familial hypertriglyceridemia	Occurrence	False	Congenital	Inferred relationship	Some
Sialic acid storage disease, severe infantile type	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit anomali i øvre fordøjelseskanal	Occurrence	False	Congenital	Inferred relationship	Some
Pelvis justo major	Occurrence	False	Congenital	Inferred relationship	Some
Lamelløs iktyose OG invagineret trikoreksi-syndrom	Occurrence	False	Congenital	Inferred relationship	Some
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance.	Occurrence	False	Congenital	Inferred relationship	Some
MVRCS association	Occurrence	False	Congenital	Inferred relationship	Some
Adams-Oliver syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of bronchus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stenosis of choanae	Occurrence	False	Congenital	Inferred relationship	Some
G-6-PD class II variant anemia	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital hypoplasia of penis	Occurrence	False	Congenital	Inferred relationship	Some
Megaloblastic anemia due to inborn errors of metabolism	Occurrence	True	Congenital	Inferred relationship	Some	3
Normosomatisk sialidose	Occurrence	False	Congenital	Inferred relationship	Some
Hanhart's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Microtia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Occurrence	False	Congenital	Inferred relationship	Some
Cervical thymic remnant	Occurrence	False	Congenital	Inferred relationship	Some
Scrapie	Occurrence	False	Congenital	Inferred relationship	Some
Trisomy X syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Hypoplasia of cementum	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous communication of coronary artery	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duplication of appendix	Occurrence	False	Congenital	Inferred relationship	Some
Microphakia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital aphakia	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia cutis congenita	Occurrence	False	Congenital	Inferred relationship	Some
Nager syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Polyotia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Accessory trachea	Occurrence	False	Congenital	Inferred relationship	Some
Acquired diverticulum of esophagus	Occurrence	False	Congenital	Inferred relationship	Some
Holoacardius acephalus	Occurrence	False	Congenital	Inferred relationship	Some
Open bite	Occurrence	False	Congenital	Inferred relationship	Some
Tandmellemrum	Occurrence	False	Congenital	Inferred relationship	Some
Deradelphus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
persisterende føtalt kredsløbssyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Abnormal communication between pericardial sac and pleura	Occurrence	False	Congenital	Inferred relationship	Some
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	Occurrence	False	Congenital	Inferred relationship	Some
Congenital syphilis	Occurrence	False	Congenital	Inferred relationship	Some
Ribose-phosphate pyrophosphokinase overactivity	Occurrence	False	Congenital	Inferred relationship	Some
Megaloblastic anemia due to error of folate metabolism	Occurrence	True	Congenital	Inferred relationship	Some	3
Infantile uterus	Occurrence	False	Congenital	Inferred relationship	Some
Hyperuricemia	Occurrence	False	Congenital	Inferred relationship	Some
Aminoaciduria	Occurrence	False	Congenital	Inferred relationship	Some
Nevus comedonicus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of nail	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cerebral meningocele	Occurrence	False	Congenital	Inferred relationship	Some
Fibrous skin tumor of tuberous sclerosis	Occurrence	False	Congenital	Inferred relationship	Some
Wiskott-Aldrich syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Double cardiac valve orifice	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of pulmonary artery	Occurrence	False	Congenital	Inferred relationship	Some
Sex phenotype-karyotype dissociation syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Abnormal position of cardiac valve	Occurrence	False	Congenital	Inferred relationship	Some
Congenital immunodeficiency disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital subluxation of hip	Occurrence	False	Congenital	Inferred relationship	Some
Thalidomide embryopathy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stenosis of tricuspid valve	Occurrence	False	Congenital	Inferred relationship	Some
Septate vagina affecting pregnancy	Occurrence	False	Congenital	Inferred relationship	Some
Dolichopellic pelvis	Occurrence	False	Congenital	Inferred relationship	Some
1p partial monosomy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of esophagus	Occurrence	False	Congenital	Inferred relationship	Some
Transposition of pulmonary veins	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of the urea cycle metabolism	Occurrence	False	Congenital	Inferred relationship	Some
Xeroderma pigmentosum, group G	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of liver	Occurrence	False	Congenital	Inferred relationship	Some
Polyostotic fibrous dysplasia of bone	Occurrence	False	Congenital	Inferred relationship	Some
Transverse deficiency of lower limb	Occurrence	False	Congenital	Inferred relationship	Some
Letal glossofaryngal defekt	Occurrence	False	Congenital	Inferred relationship	Some
Craniometaphyseal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
partiel monosomi 16q-syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duplication of cystic duct	Occurrence	False	Congenital	Inferred relationship	Some
Hepatomphalocele	Occurrence	False	Congenital	Inferred relationship	Some
Congenital notching of tip of nose	Occurrence	False	Congenital	Inferred relationship	Some
False knot of umbilical cord	Occurrence	False	Congenital	Inferred relationship	Some
Akraniat misfoster	Occurrence	False	Congenital	Inferred relationship	Some
Congenital splenomegaly	Occurrence	False	Congenital	Inferred relationship	Some
Displaced ureteric orifice	Occurrence	False	Congenital	Inferred relationship	Some
Glutamate-cysteine ligase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Monocephalus tripus dibrachius	Occurrence	False	Congenital	Inferred relationship	Some
Retinoinsyreembryopati	Occurrence	False	Congenital	Inferred relationship	Some
Hartnup disorder, renal/jejunal type	Occurrence	False	Congenital	Inferred relationship	Some
Severe combined immunodeficiency due to absent adenosine deaminase (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Transverse deficiency of upper limb	Occurrence	False	Congenital	Inferred relationship	Some
Juvenil tabes	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of anterior chamber of eye	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)