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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
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Larsen-like osseous dysplasia, short stature syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double aortic arch with left arch dominant Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 35 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Right aortic arch Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, polydactyly, uncombable hair syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability, polydactyly, uncombable hair syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 8 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Velofacioskeletal syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Striate palmoplantar keratoderma Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Right cleft lip Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial hyperprolactinemia Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Myosclerosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
17q12 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital lymphangioma of larynx Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Agenesis of corpus callosum and abnormal genitalia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multiple pterygium syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Wooly hair with palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Wooly hair with palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Left cleft lip Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive myogenic arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive myogenic arthrogryposis multiplex congenita Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Autosomal recessive myogenic arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 15 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, myopathy, short stature, endocrine defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia anauxetic type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 10 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked lethal multiple pterygium syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Verloove Vanhorick Brubakk syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Verloove Vanhorick Brubakk syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Wiedemann Steiner syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Wiedemann Steiner syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephalus, complex motor and sensory axonal neuropathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oculomaxillofacial dysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double aortic arch with right arch dominant Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Leukonychia totalis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy type 1B Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, spasticity, ectrodactyly syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, spasticity, ectrodactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital cholesteatoma Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double aortic arch with left arch dominant and right arch patent Occurrence True Congenital Inferred relationship Existential restriction modifier 1
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
White forelock with malformations syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial progressive hyperpigmentation and hypopigmentation of skin Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Joubert syndrome with orofaciodigital defect Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Double aortic arch with balanced arches Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Distal trisomy 5q syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double aortic arch with right arch dominant and atresia of left arch Occurrence True Congenital Inferred relationship Existential restriction modifier 2
2q33.1 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 10 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Complete left cleft lip and complete cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 5A Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Craniosynostosis Herrmann Opitz type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Prelingual non-syndromic genetic deafness Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Oculoauricular syndrome Schorderet type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 22 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Oro-facial digital syndrome type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 48 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 15 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Brachydactyly elbow wrist dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Brachydactyly elbow wrist dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lichtenstein syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft palate, large ears, small head syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft palate, large ears, small head syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Incomplete right cleft lip Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 21 Occurrence False Congenital Inferred relationship Existential restriction modifier 1

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