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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

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
Woolly hair with palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 2
Woolly hair with palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 1
Left cleft lip Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive myogenic arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive myogenic arthrogryposis multiplex congenita Occurrence False Congenital Inferred relationship Some 3
Autosomal recessive myogenic arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 Occurrence False Congenital Inferred relationship Some 1
Intellectual disability, myopathy, short stature, endocrine defect syndrome Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia anauxetic type Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Orofaciodigital syndrome type 10 Occurrence True Congenital Inferred relationship Some 3
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum Occurrence True Congenital Inferred relationship Some 1
X-linked lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 1
Verloove Vanhorick Brubakk syndrome Occurrence True Congenital Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Some 4
Wiedemann Steiner syndrome Occurrence True Congenital Inferred relationship Some 2
Wiedemann Steiner syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephalus, complex motor and sensory axonal neuropathy syndrome Occurrence True Congenital Inferred relationship Some 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence True Congenital Inferred relationship Some 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence True Congenital Inferred relationship Some 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence True Congenital Inferred relationship Some 1
Oculomaxillofacial dysostosis Occurrence True Congenital Inferred relationship Some 1
Double aortic arch with right arch dominant Occurrence True Congenital Inferred relationship Some 1
Leukonychia totalis Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy type 1B Occurrence True Congenital Inferred relationship Some 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Some 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome Occurrence False Congenital Inferred relationship Some 1
Intellectual disability, spasticity, ectrodactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cholesteatoma Occurrence True Congenital Inferred relationship Some 1
Double aortic arch with left arch dominant and right arch patent Occurrence True Congenital Inferred relationship Some 1
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Some 2
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Some 1
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Some 4
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Some 3
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Occurrence True Congenital Inferred relationship Some 1
Familial progressive hyperpigmentation and hypopigmentation of skin Occurrence True Congenital Inferred relationship Some 1
Joubert syndrome with orofaciodigital defect Occurrence True Congenital Inferred relationship Some 4
Double aortic arch with balanced arches Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 4
Distal trisomy 5q syndrome Occurrence True Congenital Inferred relationship Some 1
Double aortic arch with right arch dominant and atresia of left arch Occurrence True Congenital Inferred relationship Some 2
2q33.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 10 Occurrence True Congenital Inferred relationship Some 1
Complete left cleft lip and complete cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 5A Occurrence False Congenital Inferred relationship Some 1
Craniosynostosis Herrmann Opitz type Occurrence True Congenital Inferred relationship Some 1
Prelingual non-syndromic genetic deafness Occurrence False Congenital Inferred relationship Some 1
Oculoauricular syndrome Schorderet type Occurrence True Congenital Inferred relationship Some 1
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 22 syndrome Occurrence True Congenital Inferred relationship Some 1
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Some 3
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Some 2
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Some 4
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 48 Occurrence False Congenital Inferred relationship Some 1
Mosaic trisomy 15 syndrome Occurrence True Congenital Inferred relationship Some 1
Brachydactyly elbow wrist dysplasia Occurrence True Congenital Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia Occurrence True Congenital Inferred relationship Some 1
Lichtenstein syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft palate, large ears, small head syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft palate, large ears, small head syndrome Occurrence True Congenital Inferred relationship Some 2
Incomplete right cleft lip Occurrence True Congenital Inferred relationship Some 1
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 naevus syndrome Occurrence True Congenital Inferred relationship Some 1
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Occurrence True Congenital Inferred relationship Some 2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Occurrence True Congenital Inferred relationship Some 3
19p13.13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 12 Occurrence False Congenital Inferred relationship Some 2
Complicated hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
Orofaciodigital syndrome type 5 Occurrence True Congenital Inferred relationship Some 3
King Denborough syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal spastic paraplegia type 30 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
Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase Occurrence True Congenital Inferred relationship Some 1
Complete right cleft lip and complete cleft of right alveolar process of maxilla 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 cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Chondroectodermal dysplasia with night blindness syndrome Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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