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255399007: Congenital (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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)


0 descendants.

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 True Congenital Inferred relationship Some 7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8

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This concept is not in any reference sets

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