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
Acrodysostosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Micromelia	Occurrence	False	Congenital	Inferred relationship	Some	4
Brachymetacarpia	Occurrence	True	Congenital	Inferred relationship	Some	1
Acromicric dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
synbrakydaktyli i hand	Occurrence	False	Congenital	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachydactyly syndrome type C (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Symbrachydactyly of toe (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital shortening of upper arm	Occurrence	False	Congenital	Inferred relationship	Some	2
Longitudinal deficiency of part of upper limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Longitudinal deficiency of part of limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Genetic recurrent myoglobinuria (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital primary megaureter (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachymelia of lower limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dilatation of ureter (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial median cleft of upper and lower lip (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Familial median cleft of upper and lower lip (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Familial median cleft of upper and lower lip (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
3C syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
3C syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
3C syndrome	Occurrence	False	Congenital	Inferred relationship	Some	6
3C syndrome	Occurrence	False	Congenital	Inferred relationship	Some	7
Acromesomelic dysplasia Maroteaux type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bethlem myopathy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Achalasia microcephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ablepharon macrostomia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Ablepharon macrostomia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	11
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	13
X-linked intellectual disability Atkin type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked endothelial dystrophy of cornea (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 7 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 7 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 6 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 6 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 5 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 4 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 3 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 1 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital pontocerebellar hypoplasia type 8 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 8 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
8q21.11 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
8q21.11 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Atrichia with papular lesions (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Abruzzo Erickson syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	12
Annular epidermolytic ichthyosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mammary digital nail syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Mammary digital nail syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Oro-facial digital syndrome type 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Oro-facial digital syndrome type 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Oro-facial digital syndrome type 9 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Oro-facial digital syndrome type 9 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Oro-facial digital syndrome type 9 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Oro-facial digital syndrome type 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	8
Oro-facial digital syndrome type 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Oro-facial digital syndrome type 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	10
Oro-facial digital syndrome type 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	11
Oro-facial digital syndrome type 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	12
Distal monosomy 10q syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal monosomy 10q syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Distal monosomy 6p (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Distal monosomy 6p (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Distal trisomy 10q (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypothyroidism due to absence of thyroid gland (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated cryptophthalmos (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Carbohydrate deficient glycoprotein syndrome type 1m (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Congenital analbuminemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mammary digital nail syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
autosomalt dominant muskeldystrofi typ 1B i skulder-bäckengördel	Occurrence	False	Congenital	Inferred relationship	Some	2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia Reardon type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
syndrom med epitelial, exfoliativ kolit och dövhet	Occurrence	False	Congenital	Inferred relationship	Some	4
Cataract glaucoma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cataract glaucoma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Zellweger-like syndrome without peroxisomal anomaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Chromosome Xq27.3q28 duplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked severe congenital neutropenia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Seemanova type (disorder)	Occurrence	True	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)