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
Autosomal recessive spastic paraplegia type 21	Occurrence	False	Congenital	Inferred relationship	Some	1
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 62	Occurrence	False	Congenital	Inferred relationship	Some	1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
19p13.13 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 12 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 12 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Complicated hereditary spastic paraplegia	Occurrence	False	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
King Denborough syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal spastic paraplegia type 30 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Postlingual non-syndromic genetic deafness	Occurrence	False	Congenital	Inferred relationship	Some	1
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Facial dysmorphism, conductive hearing loss, heart defect syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Finnish upper limb onset distal myopathy	Occurrence	False	Congenital	Inferred relationship	Some	1
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete right cleft lip and complete right cleft of alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 16 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe combined immunodeficiency due to CTPS1 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Trichodermodysplasia and dental alterations syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Trichodermodysplasia and dental alterations syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Trichodermodysplasia and dental alterations syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Trichodermodysplasia and dental alterations syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Incomplete right cleft lip and incomplete right cleft of alveolus	Occurrence	True	Congenital	Inferred relationship	Some	1
Chondroectodermal dysplasia with night blindness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Chondroectodermal dysplasia with night blindness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Chondroectodermal dysplasia with night blindness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete left cleft lip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
SHOX-related short stature	Occurrence	True	Congenital	Inferred relationship	Some	1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia Handigodu type	Occurrence	True	Congenital	Inferred relationship	Some	1
Right aortic arch and right descending aorta	Occurrence	True	Congenital	Inferred relationship	Some	1
Odonto onycho dysplasia with alopecia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Odonto onycho dysplasia with alopecia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Odonto onycho dysplasia with alopecia syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Odonto onycho dysplasia with alopecia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Double aortic arch	Occurrence	True	Congenital	Inferred relationship	Some	1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 12 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 17 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 19	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 19	Occurrence	False	Congenital	Inferred relationship	Some	1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Lethal congenital contracture syndrome type 5	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard and soft palate with right cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	4
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 31 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital muscular dystrophy with hyperlaxity (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Constitutional mismatch repair deficiency syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete right cleft lip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete left cleft lip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spastic paraplegia, facial cutaneous lesion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Mosaic trisomy 2 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebrofacioarticular syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cowden syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 13q syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Occurrence	True	Congenital	Inferred relationship	Some	6
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Autosomal dominant spastic paraplegia type 41 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 41 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 12	Occurrence	True	Congenital	Inferred relationship	Some	4
Oro-facial digital syndrome type 12	Occurrence	True	Congenital	Inferred relationship	Some	6
Oro-facial digital syndrome type 12	Occurrence	True	Congenital	Inferred relationship	Some	5
Oro-facial digital syndrome type 12	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 12	Occurrence	True	Congenital	Inferred relationship	Some	3
Oro-facial digital syndrome type 12	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked spastic paraplegia type 34	Occurrence	False	Congenital	Inferred relationship	Some	1
X-linked spastic paraplegia type 34	Occurrence	False	Congenital	Inferred relationship	Some	2
Focal palmoplantar and gingival keratoderma	Occurrence	False	Congenital	Inferred relationship	Some	1
Focal palmoplantar and gingival keratoderma	Occurrence	False	Congenital	Inferred relationship	Some	2
Macrocephaly and developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Spastic ataxia with congenital miosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 20 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 28	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 28	Occurrence	False	Congenital	Inferred relationship	Some	2
Laubry Pezzi syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Neonatal Marfan syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Neonatal Marfan syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Neonatal Marfan syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Proximal chromosome 18q deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 42	Occurrence	False	Congenital	Inferred relationship	Some	2

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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)