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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

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

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