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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked intellectual disability Stocco Dos Santos type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Stoll type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Miles Carpenter type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Armfield type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Abidi type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
WT limb blood syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Pallister W syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
DK phocomelia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Upington disease survenue (attribut) True congénital Inferred relationship Some 2
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial agenesis of pancreas (disorder) survenue (attribut) True congénital Inferred relationship Some 1
12q14 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
12q14 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
12q14 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
14q11.2 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
14q11.2 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
14q11.2 microdeletion syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Shprintzen Goldberg craniosynostosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Shprintzen Goldberg craniosynostosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Brittle cornea syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Brittle cornea syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Carpenter Waziri syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Carpenter Waziri syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Congenital cataract with ataxia and deafness syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 39 (disorder) survenue (attribut) False congénital Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 9
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 6
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 10
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale survenue (attribut) False congénital Inferred relationship Some 5
Syndactyly type 4 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndactylie type 5 survenue (attribut) True congénital Inferred relationship Some 1
Accessory anterior naris (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lissencephaly due to tubulin alpha 1A mutation (disorder) survenue (attribut) False congénital Inferred relationship Some 2
WT limb blood syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale survenue (attribut) True congénital Inferred relationship Some 3
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Spondyloepimetaphyseal dysplasia Missouri type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia Shohat type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Spondyloepiphyseal dysplasia Kimberley type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
dysplasie spondylo-épiphysaire type Maroteaux survenue (attribut) True congénital Inferred relationship Some 1
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Sparse hair with short stature and skin anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Sparse hair with short stature and skin anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Sparse hair with short stature and skin anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Smith Fineman Myers syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Smith Fineman Myers syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Short stature Brussels type (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Short stature Brussels type (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Self-healing collodion baby (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Acral self-healing collodion baby (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Pyknoachondrogenesis (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Pyknoachondrogenesis (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Pyknoachondrogenesis (disorder) survenue (attribut) False congénital Inferred relationship Some 7
hétéroplasie osseuse progressive survenue (attribut) True congénital Inferred relationship Some 1
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Spinocerebellar ataxia type 34 (disorder) survenue (attribut) False congénital Inferred relationship Some 5
BSG syndrome survenue (attribut) True congénital Inferred relationship Some 3
BSG syndrome survenue (attribut) False congénital Inferred relationship Some 4
BSG syndrome survenue (attribut) False congénital Inferred relationship Some 5
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Progressive non-infectious anterior vertebral fusion (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Progressive non-infectious anterior vertebral fusion (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Pelvis shoulder dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Pelvis shoulder dysplasia (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Pelviscapular dysplasia survenue (attribut) True congénital Inferred relationship Some 2
Pelviscapular dysplasia survenue (attribut) False congénital Inferred relationship Some 3
Spondylometaphyseal dysplasia Schmidt type (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Stapes ankylosis with broad thumb and toe syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Stapes ankylosis with broad thumb and toe syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Stapes ankylosis with broad thumb and toe syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Steatocystoma multiplex with natal tooth syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Microcephalus with albinism and digital anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Microcephalus with albinism and digital anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 10
Microcephalus with albinism and digital anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 11
Microcephalus with albinism and digital anomaly syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 12
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 7
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Microcephalus cardiomyopathy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2

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