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
X-linked hereditary spastic paraplegia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Atrichia with papular lesions (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary cavernous hemangioma of brain (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome due to tenascin-X deficiency	Occurrence	True	Congenital	Inferred relationship	Some	3
Schwannomatosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	Occurrence	False	Congenital	Inferred relationship	Some	4
Teebi Shaltout syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Chondroectodermal dysplasia with night blindness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Chondroectodermal dysplasia with night blindness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Chondroectodermal dysplasia with night blindness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Conductive deafness, ptosis, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Conductive deafness, ptosis, skeletal anomalies syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Focal palmoplantar and gingival keratoderma	Occurrence	False	Congenital	Inferred relationship	Some	3
RAB18, member RAS oncogene family deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ehlers-Danlos syndrome spondylocheirodysplastic type	Occurrence	True	Congenital	Inferred relationship	Some	3
Roifman syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Complete aphalangia of upper limb	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopia cordis	Occurrence	True	Congenital	Inferred relationship	Some	1
Lumbosacral prespondylolisthesis	Occurrence	False	Congenital	Inferred relationship	Some	1
Lowe syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Lowe syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Wildervanck syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Wildervanck syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Wildervanck syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Wildervanck syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Ehlers-Danlos syndrom, dominant typ 4	Occurrence	False	Congenital	Inferred relationship	Some	1
Prader-Willi syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Monostotic fibrous dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Aicardi's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Floating gallbladder	Occurrence	True	Congenital	Inferred relationship	Some	1
Cor biloculare	Occurrence	True	Congenital	Inferred relationship	Some	1
Cor biloculare	Occurrence	True	Congenital	Inferred relationship	Some	2
Treacher Collins syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	True	Congenital	Inferred relationship	Some	3
Ehlers-Danlos syndrome, type 1	Occurrence	True	Congenital	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinaemic	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteitis fibrosa cystica	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital cleft of thymus	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis type 2	Occurrence	False	Congenital	Inferred relationship	Some	1
Neurofibromatosis type 1	Occurrence	True	Congenital	Inferred relationship	Some	1
Combined valvular-subvalvular pulmonic stenosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormal fusion of arch of lumbar vertebra	Occurrence	True	Congenital	Inferred relationship	Some	1
Monophthalmos	Occurrence	True	Congenital	Inferred relationship	Some	1
Extracapsular adrenal tissue	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemicentric lumbar centrum	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemicentric thoracic centrum	Occurrence	True	Congenital	Inferred relationship	Some	1
Hologastroschisis	Occurrence	True	Congenital	Inferred relationship	Some	1
Single naris	Occurrence	True	Congenital	Inferred relationship	Some	1
Hallermann-Streiff syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Distichiasis-lymphedema syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Hereditary elliptocytosis due to alpha spectrin defect	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital syphilitic choroiditis	Occurrence	True	Congenital	Inferred relationship	Some	1
Arthrogryposis and ectodermal dysplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	8
Arthrogryposis and ectodermal dysplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	7
Congenital volvulus of stomach	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital duodenal obstruction due to annular pancreas	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lymphangiectasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cutaneous lymphangiectasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lymphangiectasia with chylous reflux (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormality of atrium (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Blepharophimosis and mental retardation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Blepharophimosis and mental retardation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Arteriovenous malformation of uterus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of oesophagus with oesophagobronchial fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of oesophagus with oesophagobronchial fistula	Occurrence	True	Congenital	Inferred relationship	Some	3
Atresia of oesophagus with oesophagobronchial fistula	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	2
Gamma delta beta thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Agenesis of artery	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurenteric cyst (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Focal facial dermal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type I	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type I	Occurrence	True	Congenital	Inferred relationship	Some	2
Focal facial dermal dysplasia type II	Occurrence	True	Congenital	Inferred relationship	Some	2
Focal facial dermal dysplasia type II	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type III	Occurrence	True	Congenital	Inferred relationship	Some	2
Focal facial dermal dysplasia type III	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type IV (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal facial dermal dysplasia type IV (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked acrogigantism due to Xq26 microduplication	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of anterior portion of neck (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis	Occurrence	True	Congenital	Inferred relationship	Some	5
SPOAN and SPOAN-related disorder	Occurrence	False	Congenital	Inferred relationship	Some	3
SPOAN and SPOAN-related disorder	Occurrence	False	Congenital	Inferred relationship	Some	1
SPOAN and SPOAN-related disorder	Occurrence	False	Congenital	Inferred relationship	Some	2
Complete achromatopsia	Occurrence	True	Congenital	Inferred relationship	Some	1
Blue cone monochromatism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Retinal racemose hemangioma	Occurrence	True	Congenital	Inferred relationship	Some	1
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1

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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)