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
Occipital pachygyria and polymicrogyria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Lipoic acid synthetase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of ostium of coronary artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dermotrichic syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Dermotrichic syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Dermotrichic syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
High bone mass osteogenesis imperfecta	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondylometaphyseal dysplasia A4 type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 21	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Multisystemic smooth muscle dysfunction syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Multisystemic smooth muscle dysfunction syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Multisystemic smooth muscle dysfunction syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 10 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 10 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Otospondylomegaepiphyseal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Pontine tegmental cap dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Haemoglobinopathy Toms River	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked calvarial hyperostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Recessive mitochondrial ataxia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
osteomesopyknos	Occurrence	False	Congenital	Inferred relationship	Some	1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 22 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sphenoidal dysostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dobrow syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Extensor tendons of finger anomalies (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Renal caliceal diverticuli and deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Renal caliceal diverticuli and deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Thoracic dysplasia and hydrocephalus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Harlequin ichthyosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Ichthyosis bullosa of Siemens	Occurrence	True	Congenital	Inferred relationship	Some	3
Annular epidermolytic ichthyosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Localised bullous ichthyosiform erythroderma	Occurrence	True	Congenital	Inferred relationship	Some	3
Richieri Costa-da Silva syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Richieri Costa-da Silva syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
DNA2-related mitochondrial DNA deletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 14	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 14	Occurrence	False	Congenital	Inferred relationship	Some	2
Thin ribs, tubular bones, dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Thin ribs, tubular bones, dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Progressive myoclonic epilepsy type 3	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal monosomy 20q	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal monosomy 20q	Occurrence	True	Congenital	Inferred relationship	Some	1
RIDDLE syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
RIDDLE syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Talipes valgus of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Persistent Eustachian valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Persistent Eustachian valve	Occurrence	True	Congenital	Inferred relationship	Some	2
Aplasia of uterine cervix	Occurrence	True	Congenital	Inferred relationship	Some	1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrocephaly, intellectual disability, autism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Macrocephaly, intellectual disability, autism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplastic cortical hyperostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic genome-wide paternal uniparental disomy	Occurrence	True	Congenital	Inferred relationship	Some	1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Subaortic stenosis and short stature syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Radial deficiency, tibial hypoplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Radial deficiency, tibial hypoplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Holzgreve syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Holzgreve syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Holzgreve syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Holzgreve syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Stickler syndrome type 3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Stickler syndrome type 3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Stickler syndrome type 3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thoracomelic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Thoracomelic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Talipes valgus of right foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Lipomyelomeningocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Lipomyelomeningocele	Occurrence	False	Congenital	Inferred relationship	Some	3

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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)