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
X-linked intellectual disability Seemanova type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndromic X-linked intellectual disability type 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Siderius type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Stevenson type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked intellectual disability Stocco Dos Santos type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Stoll type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Pai type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Miles Carpenter type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Armfield type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Abidi type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
WT limb blood syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Pallister W syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
DK phocomelia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Upington disease	Occurrence	True	Congenital	Inferred relationship	Some	2
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial agenesis of pancreas (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
14q11.2 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
14q11.2 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
14q11.2 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Brittle cornea syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Brittle cornea syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Carpenter-Waziris syndrom	Occurrence	False	Congenital	Inferred relationship	Some	2
Carpenter-Waziris syndrom	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital cataract with ataxia and deafness syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Autosomal recessive spastic paraplegia type 39 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
syndrom med X-bunden intellektuell funktionsnedsättning, agenesi av corpus callosum och spastisk quadripares	Occurrence	False	Congenital	Inferred relationship	Some	2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	10
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Syndactyly type 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndactyly type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Accessory anterior naris (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lissencephaly due to tubulin alpha 1A mutation (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
WT limb blood syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Spondyloepimetaphyseal dysplasia Missouri type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia Kimberley type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
syndrom med sparsam hårväxt, kortvuxenhet och missbildning i huden	Occurrence	False	Congenital	Inferred relationship	Some	3
syndrom med sparsam hårväxt, kortvuxenhet och missbildning i huden	Occurrence	False	Congenital	Inferred relationship	Some	4
syndrom med sparsam hårväxt, kortvuxenhet och missbildning i huden	Occurrence	False	Congenital	Inferred relationship	Some	5
Smith-Fineman-Myers syndrom	Occurrence	False	Congenital	Inferred relationship	Some	2
Smith-Fineman-Myers syndrom	Occurrence	False	Congenital	Inferred relationship	Some	3
Short stature Brussels type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Short stature Brussels type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Self-healing collodion baby (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Acral self-healing collodion baby (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Pyknoachondrogenesis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Pyknoachondrogenesis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Pyknoachondrogenesis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Progressive osseous heteroplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Spinocerebellar ataxia type 34 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
BSG syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
BSG syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
BSG syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Progressive non-infectious anterior vertebral fusion (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Progressive non-infectious anterior vertebral fusion (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Pelvis shoulder dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pelvis shoulder dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Pelviscapular dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Pelviscapular dysplasia	Occurrence	False	Congenital	Inferred relationship	Some	3
Spondylometaphyseal dysplasia Schmidt type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Steatocystoma multiplex with natal tooth syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Microcephalus with albinism and digital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	9
Microcephalus with albinism and digital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	10
Microcephalus with albinism and digital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	11
Microcephalus with albinism and digital anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	12
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8

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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)