255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\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	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Microphthalmos of right eye	Occurrence	True	Congenital	Inferred relationship	Some	1
Microphthalmos of left eye	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pit of optic disc (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pit of optic disc of left eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pit of optic disc of right eye	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anterior subcapsular polar cataract	Occurrence	True	Congenital	Inferred relationship	Some	1
Major aortopulmonary collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital posterior subcapsular polar cataract	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital blepharophimosis	Occurrence	False	Congenital	Inferred relationship	Some	2
kongenital blefarofimos i nedre ögonlock	Occurrence	False	Congenital	Inferred relationship	Some	2
Bilateral congenital aniridia of eyes	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral congenital aniridia of eyes	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral infantile esotropia of eyes	Occurrence	False	Congenital	Inferred relationship	Some	2
Bilateral infantile esotropia of eyes	Occurrence	False	Congenital	Inferred relationship	Some	1
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Accessory tarsal bone of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital muscular dystrophy type 1A	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal arthrogryposis type 6 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurogenic arthrogryposis multiplex congenita (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant multiple pterygium syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
kongenital och utvecklingsbetingad myasteni	Occurrence	False	Congenital	Inferred relationship	Some	1
21q22.11q22.12 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
21q22.11q22.12 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
21q22.11q22.12 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Monosomy 22 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Muenke syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteopathia striata, pigmentary dermopathy, white forelock syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Osteopathia striata, pigmentary dermopathy, white forelock syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Oligodontia	Occurrence	True	Congenital	Inferred relationship	Some	2
Oligodontia	Occurrence	True	Congenital	Inferred relationship	Some	1
Bifid nose (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Solitary infantile myofibromatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Infantile myofibromatosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Aggressive systemic infantile myofibromatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Multicentric infantile myofibromatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital nuclear cataract of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital nuclear cataract of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital posterior subcapsular polar cataract of left eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital posterior subcapsular polar cataract of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital posterior subcapsular polar cataract of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital posterior subcapsular polar cataract of right eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Amyotonia congenita	Occurrence	True	Congenital	Inferred relationship	Some	2
Amyotonia congenita	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital subaortic diverticulum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital ectopia of lacrimal punctum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital rhabdomyomatous mesenchymal hamartoma	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital diffuse lipomatosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital postural scoliosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Encephalocraniocutaneous lipomatosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hydrocele of canal of Nuck (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pendred's syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Aneurysm osteoarthritis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
PGM1-related congenital disorder of glycosylation	Occurrence	True	Congenital	Inferred relationship	Some	1
Bleeding diathesis due to thromboxane synthesis deficiency	Occurrence	True	Congenital	Inferred relationship	Some	2
Chronic granulomatous disease, type II	Occurrence	True	Congenital	Inferred relationship	Some	2
Muscle eye brain disease with bilateral multicystic leukodystrophy	Occurrence	True	Congenital	Inferred relationship	Some	5
Chronic granulomatous disease, type III	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal dominant secondary polycythemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Osteopathia striata, pigmentary dermopathy, white forelock syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Short chain acyl-coenzyme A dehydrogenase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Occurrence	True	Congenital	Inferred relationship	Some	2
svår akondroplasi med försenad utveckling och acanthosis nigricans	Occurrence	False	Congenital	Inferred relationship	Some	5
Majeed syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Chronic granulomatous disease, type IIA	Occurrence	True	Congenital	Inferred relationship	Some	2
cervikalt hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	2
lumbalt hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	2
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	2
parodontit samtidigt med Chédiak-Higashis syndrom	Occurrence	False	Congenital	Inferred relationship	Some	4
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypopigmentation-immunodeficiency disease	Occurrence	True	Congenital	Inferred relationship	Some	3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Lipoyl transferase 1 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Usher syndrome type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Chronic granulomatous disease, type I	Occurrence	True	Congenital	Inferred relationship	Some	2
torakal hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital arthrogryposis due to teratogen	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Chronic granulomatous disease, type IV	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudovaginal perineoscrotal hypospadias	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2A (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactylous dwarfism Mseleni type	Occurrence	True	Congenital	Inferred relationship	Some	2
Albinism with deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Retinitis pigmentosa-deafness syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Usher syndrome type 1	Occurrence	True	Congenital	Inferred relationship	Some	4
Chronic granulomatous disease, type IA	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Menkes kinky-hair syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Arthrogryposis and ectodermal dysplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Chronic granulomatous disease, type IVA	Occurrence	True	Congenital	Inferred relationship	Some	2
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Larsen-like syndrome B3GAT3 type	Occurrence	True	Congenital	Inferred relationship	Some	7
Retinitis pigmentosa-deafness-ataxia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4

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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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)