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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
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Fried syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
incontinentia pigmenti survenue (attribut) True congénital Inferred relationship Some 3
incontinentia pigmenti survenue (attribut) True congénital Inferred relationship Some 4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome survenue (attribut) True congénital Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome survenue (attribut) True congénital Inferred relationship Some 1
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) survenue (attribut) True congénital Inferred relationship Some 3
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome survenue (attribut) True congénital Inferred relationship Some 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability survenue (attribut) True congénital Inferred relationship Some 1
POGLUT1-related limb girdle muscular dystrophy R21 survenue (attribut) True congénital Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Acquired subpulmonary stenosis associated with functionally univentricular heart survenue (attribut) True congénital Inferred relationship Some 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart survenue (attribut) True congénital Inferred relationship Some 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure survenue (attribut) True congénital Inferred relationship Some 1
Acquired subaortic stenosis associated with functionally univentricular heart (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart survenue (attribut) True congénital Inferred relationship Some 3
Allan-Herndon-Dudley syndrome survenue (attribut) False congénital Inferred relationship Some 1
Allan-Herndon-Dudley syndrome survenue (attribut) True congénital Inferred relationship Some 2
Allan-Herndon-Dudley syndrome survenue (attribut) False congénital Inferred relationship Some 3
Allan-Herndon-Dudley syndrome survenue (attribut) True congénital Inferred relationship Some 4
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Oculootoradial syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Cardiospondylocarpofacial syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Lowry Yong syndrome survenue (attribut) True congénital Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital cataract with deafness and hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Deafness craniofacial syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
syndrome de coussinets des phalanges-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire (trouble) survenue (attribut) True congénital Inferred relationship Some 7
Severe X-linked mitochondrial encephalomyopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 30 survenue (attribut) True congénital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 29 survenue (attribut) True congénital Inferred relationship Some 2
Combined oxidative phosphorylation defect type 27 survenue (attribut) True congénital Inferred relationship Some 2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
X-linked corneal dermoid (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 3
Kosaki overgrowth syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Kosaki overgrowth syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Multiple carboxylase deficiency survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
X-linked intellectual disability with marfanoid habitus (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Christianson syndrome survenue (attribut) True congénital Inferred relationship Some 1
X-linked neurodegenerative syndrome Bertini type (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Acyl-coenzyme A oxidase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Combined oxidative phosphorylation defect type 26 survenue (attribut) True congénital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 25 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Combined oxidative phosphorylation defect type 23 survenue (attribut) True congénital Inferred relationship Some 1
Early congenital est un(e) (attribut) True congénital Inferred relationship Some
Late congenital est un(e) (attribut) True congénital Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome survenue (attribut) False congénital Inferred relationship Some 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome survenue (attribut) False congénital Inferred relationship Some 5
Congenital generalized hypercontractile muscle stiffness syndrome survenue (attribut) True congénital Inferred relationship Some 3
Congenital generalized hypercontractile muscle stiffness syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mulberry molar teeth survenue (attribut) True congénital Inferred relationship Some 2
Laminopathy with premature aging (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome survenue (attribut) True congénital Inferred relationship Some 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 78 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 78 (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia survenue (attribut) True congénital Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia survenue (attribut) True congénital Inferred relationship Some 2
Oral-facial-digital syndrome with short stature and brachymesophalangia survenue (attribut) True congénital Inferred relationship Some 3
Oral-facial-digital syndrome with short stature and brachymesophalangia survenue (attribut) True congénital Inferred relationship Some 4
Oral-facial-digital syndrome with short stature and brachymesophalangia survenue (attribut) True congénital Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Metopic ridging, ptosis, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 1
Metopic ridging, ptosis, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 2
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Familial patent arterial duct survenue (attribut) True congénital Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia survenue (attribut) True congénital Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia survenue (attribut) True congénital Inferred relationship Some 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to congenital anomaly of thyroid gland survenue (attribut) True congénital Inferred relationship Some 1

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