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
Oculootodental syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculootodental syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Oculootodental syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Oculootodental syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Globodontia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Duane's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Duane's syndrome, type 3	Occurrence	True	Congenital	Inferred relationship	Some	1
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Duane's syndrome of right eye	Occurrence	True	Congenital	Inferred relationship	Some	2
Duane's syndrome, type 1	Occurrence	True	Congenital	Inferred relationship	Some	1
Duane's syndrome, type 2	Occurrence	True	Congenital	Inferred relationship	Some	1
Duane's syndrome of bilateral eyes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Duane's syndrome of left eye (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Duane syndrome with vertical deviation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Kostmann syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Absent radius, anogenital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Absent radius, anogenital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Absent radius, anogenital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pilodental dysplasia, refractive errors syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pilodental dysplasia, refractive errors syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Pilodental dysplasia, refractive errors syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pilodental dysplasia, refractive errors syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pilodental dysplasia, refractive errors syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Polymicrogyria with optic nerve hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Polymicrogyria with optic nerve hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
1q21.1 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
1q21.1 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital muscular dystrophy due to lamin A/C mutation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Parietal foramina with clavicular hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Parietal foramina with clavicular hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	3
Parietal foramina with clavicular hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Ptosis and vocal cord paralysis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ptosis and vocal cord paralysis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ptosis and vocal cord paralysis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
14q11.2 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
14q11.2 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Localised congenital skull defect	Occurrence	True	Congenital	Inferred relationship	Some	1
15q11.2 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
15q11.2 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Digital extensor muscle aplasia with polyneuropathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Digital extensor muscle aplasia with polyneuropathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Axial spondylometaphyseal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Teebi Shaltout syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Teebi Shaltout syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Teebi Shaltout syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant multiple pterygium syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectodermal dysplasia syndactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ectodermal dysplasia syndactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Ectodermal dysplasia syndactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ectodermal dysplasia syndactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Ectodermal dysplasia syndactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ptosis and vocal cord paralysis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Pseudoleprechaunism syndrome Patterson type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe neonatal onset encephalopathy with microcephaly (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Duane syndrome with vertical deviation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pseudomonas pyocyaneus congenital infection	Occurrence	True	Congenital	Inferred relationship	Some	1
Keutel syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
kondrodystrofisk malaci	Occurrence	False	Congenital	Inferred relationship	Some	1
kondrodystrofisk malaci	Occurrence	False	Congenital	Inferred relationship	Some	2
Hypoplastic chondrodystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Clutton's joints	Occurrence	True	Congenital	Inferred relationship	Some	1
hyperplastisk kondrodystrofi	Occurrence	False	Congenital	Inferred relationship	Some	1
Keutel syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Late congenital syphilitic polyneuropathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypertrophic pyloric stenosis	Occurrence	True	Congenital	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
14q22q23 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
14q22q23 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
14q22q23 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Ogden syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Solitary arterial trunk	Occurrence	True	Congenital	Inferred relationship	Some	1
Keutel syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Jawad syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Jawad syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Jawad syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Keutel syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Papular epidermal naevi with skyline basal cell layers syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Papular epidermal naevi with skyline basal cell layers syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Severe combined immunodeficiency due to CARD11 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Autism spectrum disorder due to AUTS2 deficiency	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)