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
Oro-facial digital syndrome type 14	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Occurrence	True	Congenital	Inferred relationship	Some	3
Oro-facial digital syndrome type 14	Occurrence	True	Congenital	Inferred relationship	Some	4
Oro-facial digital syndrome type 14	Occurrence	True	Congenital	Inferred relationship	Some	5
Larsen-like osseous dysplasia, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double aortic arch with left arch dominant (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 35	Occurrence	False	Congenital	Inferred relationship	Some	1
Right aortic arch	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, polydactyly, uncombable hair syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability, polydactyly, uncombable hair syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 8 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft hard and soft palate with bilateral cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cleft soft palate with right cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Velofacioskeletal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Striate palmoplantar keratoderma (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Right cleft lip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial hyperprolactinemia	Occurrence	False	Congenital	Inferred relationship	Some	1
Myosclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
17q12 microduplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Primary laryngeal lymphangioma	Occurrence	True	Congenital	Inferred relationship	Some	1
Agenesis of corpus callosum and abnormal genitalia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple pterygium syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Wooly hair with palmoplantar keratoderma syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Wooly 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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	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 (disorder)	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
Oro-facial digital syndrome type 10 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Double aortic arch with right arch dominant and atresia of left arch and left ligament to diverticulum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked lethal multiple pterygium syndrome (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oculomaxillofacial dysostosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double aortic arch with right arch dominant (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Leukonychia totalis (disorder)	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 (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial progressive hyper and hypopigmentation	Occurrence	True	Congenital	Inferred relationship	Some	1
Joubert syndrome with orofaciodigital defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Double aortic arch with balanced arches (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard and soft palate with left cleft lip and alveolus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Distal trisomy 5q syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double aortic arch with right arch dominant and atresia of left arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
2q33.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 10 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete left cleft lip and complete left cleft of alveolus	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 5A	Occurrence	False	Congenital	Inferred relationship	Some	1
Craniosynostosis Herrmann Opitz type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Prelingual non-syndromic genetic deafness (disorder)	Occurrence	True	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Oro-facial digital syndrome type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Oro-facial digital syndrome type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 48 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Mosaic trisomy 15 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly elbow wrist dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Brachydactyly elbow wrist dysplasia (disorder)	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

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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)