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
Sacralization of lumbar vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of sacroiliac joint	Occurrence	False	Congenital	Inferred relationship	Some
Leber's amaurosis	Occurrence	False	Congenital	Inferred relationship	Some
Neuromuscular scoliosis	Occurrence	False	Congenital	Inferred relationship	Some
Fallopian tube and broad ligament anomalies (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Anomalier i tuba uterina og ligamentum latum uteri, uspecificeret	Occurrence	False	Congenital	Inferred relationship	Some
Embryonisk cyste på tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Andre anomalier i tuba uterina og ligamentum latum uteri	Occurrence	False	Congenital	Inferred relationship	Some
Andre anomalier i tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Anomalier i tuba uterina eller ligamentum latum uteri, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of spine	Occurrence	False	Congenital	Inferred relationship	Some
kongenit deformitet af rygsøjlen, uspecificeret	Occurrence	False	Congenital	Inferred relationship	Some
Congenital scoliosis due to bony malformation	Occurrence	False	Congenital	Inferred relationship	Some
anomali af rygsøjlen, uspecificeret	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit manglende vertebra, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Cervical hemivertebra- balanced	Occurrence	False	Congenital	Inferred relationship	Some
Cervical hemivertebra - unbalanced	Occurrence	False	Congenital	Inferred relationship	Some
Lumbar hemivertebra - balanced	Occurrence	False	Congenital	Inferred relationship	Some
Lumbar hemivertebra - unbalanced	Occurrence	False	Congenital	Inferred relationship	Some
Hemivertebra, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Congenital complete fusion of spine	Occurrence	False	Congenital	Inferred relationship	Some
Congenital partial fusion of spine - balanced	Occurrence	False	Congenital	Inferred relationship	Some
Congenital partial fusion of spine - unbalanced	Occurrence	False	Congenital	Inferred relationship	Some
Congenital partial fusion of spine with hemivertebra - balanced	Occurrence	False	Congenital	Inferred relationship	Some
Congenital partial fusion of spine with hemivertebra - unbalanced	Occurrence	False	Congenital	Inferred relationship	Some
kongenitte anomalier af halshvirvler, ikke klassificeret andetsteds	Occurrence	False	Congenital	Inferred relationship	Some
kongenit anomali af halshvirvler, ikke klassificeret andetsteds, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
kongenitte anomalier af brysthvirvler, ikke klassificeret andetsteds	Occurrence	False	Congenital	Inferred relationship	Some
kongenit anomali af brysthvirvler, ikke klassificeret andetsteds, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
kongenitte anomalier af lændehvirvler, ikke klassificeret andetsteds	Occurrence	False	Congenital	Inferred relationship	Some
kongenit anomali af lændehvirvel, ikke klassificeret andetsteds, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
kongenitte sakrokokcygeale anomalier, ikke klassificeret andetsteds	Occurrence	False	Congenital	Inferred relationship	Some
kongenit sakrokokcygeal anomali, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit manglende rygsøjle, ikke klassificeret andetsteds	Occurrence	False	Congenital	Inferred relationship	Some
Defect of vertebral segmentation	Occurrence	False	Congenital	Inferred relationship	Some
Hypoplasia of spine	Occurrence	False	Congenital	Inferred relationship	Some
anden anomali af rygsøjlen, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
anomalier af rygsøjlen, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
[X]Other congenital malformations of fallopian tube and broad ligament	Occurrence	False	Congenital	Inferred relationship	Some
[X]Other congenital malformations of spine, not associated with scoliosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital postural scoliosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital heart disease in pregnancy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of spine	Occurrence	False	Congenital	Inferred relationship	Some
Congenital lumbosacral fusion	Occurrence	False	Congenital	Inferred relationship	Some
Congenital sacrococcygeal anomaly	Occurrence	False	Congenital	Inferred relationship	Some
Deformationes columnae vertebralis congenitae, ikke nærmere specificeret	Occurrence	False	Congenital	Inferred relationship	Some
Anden anomali af rygsøjlen	Occurrence	False	Congenital	Inferred relationship	Some
Congenital partial fusion of spine	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malformation of ovaries and fallopian tubes	Occurrence	False	Congenital	Inferred relationship	Some
Lumbarized first sacral vertebra	Occurrence	False	Congenital	Inferred relationship	Some
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum	Occurrence	False	Congenital	Inferred relationship	Some
Congenital lordosis/scoliosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acquired absence of ovary (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Spondyloschisis	Occurrence	False	Congenital	Inferred relationship	Some
A congenital anomaly of a vertebra in which it develops characteristic(s) of the adjoining structure or region.	Occurrence	False	Congenital	Inferred relationship	Some
Cervikal malformation – misdannelse af led	Occurrence	False	Congenital	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Osteogenesis imperfecta type III (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Agenesis of vagina	Occurrence	False	Congenital	Inferred relationship	Some
imperforeret vagina	Occurrence	False	Congenital	Inferred relationship	Some
Becker muscular dystrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Chronic granulomatous disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital fusion of spine	Occurrence	False	Congenital	Inferred relationship	Some
Thanatophoric dysplasia, type 1 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Thanatophoric dysplasia, type 2 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Sponastrime dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acroscyphodysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Brakyolmi – Hobæk-type	Occurrence	False	Congenital	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Trichorhinophalangeal dysplasia type III (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Brachydactyly syndrome type B (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Brachydactyly syndrome type C (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Precocious osteodysplasty (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Yunis-Varon dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Osteoplastic dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Osteodysplastic dysplasia, type I (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Osteodysplastic dysplasia, type II (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Mikrocefalisk osteodysplastisk dysplasi	Occurrence	False	Congenital	Inferred relationship	Some
Cole-Carpenter dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Mixed sclerosing bone dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	Occurrence	False	Congenital	Inferred relationship	Some
Diaphyseal medullary stenosis with bone malignancy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Neonatal osteosclerotic dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Blomstrand dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.	Occurrence	False	Congenital	Inferred relationship	Some
Lethal chondrodysplasia with fragmented bone (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Greenberg dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Dappled diaphyseal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Astley-Kendall dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Genochondromatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Spondyloenchondromatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Cherubism with gingival fibromatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Patella dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Scypho-patellar dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pectus excavatum (disorder)	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)