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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
Defect in post-translational modification of lysosomal enzymes survenue (attribut) True congénital Inferred relationship Some 1
Enterokinase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Trypsinogen deficiency survenue (attribut) True congénital Inferred relationship Some 1
Thymic aplasia or dysplasia with immunodeficiency survenue (attribut) False congénital Inferred relationship Some
Severe combined immunodeficiency with reticular dysgenesis (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Severe combined immunodeficiency with low T- and B-cell numbers survenue (attribut) True congénital Inferred relationship Some 2
Severe combined immunodeficiency with low or normal B-cell numbers survenue (attribut) True congénital Inferred relationship Some 2
Major histocompatibility complex class I deficiency survenue (attribut) True congénital Inferred relationship Some 2
Major histocompatibility complex class II deficiency survenue (attribut) True congénital Inferred relationship Some 2
Common variable immunodeficiency with predominant abnormalities of B-cell numbers and functions survenue (attribut) True congénital Inferred relationship Some 3
Common variable immunodeficiency with predominant immunoregulatory T-cell disorders survenue (attribut) True congénital Inferred relationship Some 3
Common variable immunodeficiency with autoantibodies to B- or T-cells survenue (attribut) True congénital Inferred relationship Some 3
Hereditary vascular fragility survenue (attribut) False congénital Inferred relationship Some
Retinal dystrophy in cerebroretinal lipidosis survenue (attribut) True congénital Inferred relationship Some 2
dégénérescence cérébrale dans la maladie de Hunter survenue (attribut) False congénital Inferred relationship Some
dégénérescence cérébrale dans les mucopolysaccharidoses survenue (attribut) False congénital Inferred relationship Some
Syringomyelia and syringobulbia survenue (attribut) False congénital Inferred relationship Some
Epileptic seizures - myoclonic survenue (attribut) False congénital Inferred relationship Some
Eyelid vascular anomalies survenue (attribut) False congénital Inferred relationship Some
Crater-like optic disc holes survenue (attribut) False congénital Inferred relationship Some
Paternal uniparental disomy of chromosome 5 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Non-distal monosomy 10q (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Non-distal monosomy 10q (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital web of esophagus survenue (attribut) True congénital Inferred relationship Some 1
Tetrasomy 11q24.1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Ectasia of left atrial appendage survenue (attribut) True congénital Inferred relationship Some 1
Infantile spasm and broad thumb syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Infantile spasm and broad thumb syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Infantile spasm and broad thumb syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Infantile spasm and broad thumb syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Uterus unicornis survenue (attribut) True congénital Inferred relationship Some 1
Monosomy 13q14 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Monosomy 13q14 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Microcephalic primordial dwarfism Alazami type (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Maternal uniparental disomy of chromosome 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lissencephaly syndrome Norman Roberts type (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Lissencephaly due to LIS1 mutation survenue (attribut) True congénital Inferred relationship Some 1
Genetic transient congenital hypothyroidism (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal 17p13.1 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal 17p13.1 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia survenue (attribut) True congénital Inferred relationship Some 3
Congenital deafness with labyrinthine aplasia, microtia and microdontia survenue (attribut) True congénital Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia survenue (attribut) True congénital Inferred relationship Some 2
Familial bicuspid aortic valve (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 14q syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 14q syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Desmin-related myofibrillar myopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital upper esophageal web survenue (attribut) True congénital Inferred relationship Some 1
Congenital stenosis of cervical spinal canal (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Brachydactyly type B2 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Brachydactyly type B2 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Ectasia of right atrial appendage (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Type 2 lissencephaly survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypoplasia of entire upper limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Type 1 lissencephaly survenue (attribut) True congénital Inferred relationship Some 1
Prader-Willi-like syndrome survenue (attribut) True congénital Inferred relationship Some 2
Prader-Willi-like syndrome survenue (attribut) True congénital Inferred relationship Some 3
Prader-Willi-like syndrome survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked spondyloepimetaphyseal dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 6 survenue (attribut) True congénital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 13 survenue (attribut) True congénital Inferred relationship Some 1
Non-distal trisomy 10q survenue (attribut) True congénital Inferred relationship Some 1
Ring chromosome 12 syndrome survenue (attribut) True congénital Inferred relationship Some 1
isochromosomie Yq survenue (attribut) True congénital Inferred relationship Some 1
Pseudounicornuate uterus (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital right ventricular aneurysm survenue (attribut) True congénital Inferred relationship Some 1
Progeroid syndrome Petty type survenue (attribut) True congénital Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type survenue (attribut) True congénital Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type survenue (attribut) True congénital Inferred relationship Some 2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Maternal uniparental disomy of chromosome 13 survenue (attribut) True congénital Inferred relationship Some 1
Lissencephaly type 1 due to doublecortin gene mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
lissencéphalie type 1 inexpliquée survenue (attribut) True congénital Inferred relationship Some 1
Microlissencephaly micromelia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Craniotelencephalic dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lower limb malformation hypospadias syndrome survenue (attribut) True congénital Inferred relationship Some 1
Lower limb malformation hypospadias syndrome survenue (attribut) True congénital Inferred relationship Some 2
macrodacytylie du pouce survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 19p13.3 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 19p13.3 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Crossed polysyndactyly (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Crossed polysyndactyly (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Choanal atresia with radial ray hypoplasia survenue (attribut) True congénital Inferred relationship Some 1
Lissencephaly survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypoplasia of part of upper limb survenue (attribut) True congénital Inferred relationship Some 1
syndrome de séquence de Robin-oligodactylie survenue (attribut) True congénital Inferred relationship Some 1
syndrome de séquence de Robin-oligodactylie survenue (attribut) True congénital Inferred relationship Some 2
Miller Dieker syndrome survenue (attribut) True congénital Inferred relationship Some 1
10q22.3q23.3 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
10q22.3q23.3 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2

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