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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
Congenital hypothyroidism due to congenital anomaly of thyroid gland survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to peripheral resistance to thyroid hormone (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to thyroglobulin mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to thyroid peroxidase mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to thyroid deiodinase mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypothyroidism due to symporter mutation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Diffuse pulmonary lymphangiomatosis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Congenital deficiency of cochlear nerve (disorder) survenue (attribut) True congénital Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Gabriele-de Vries syndrome survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 survenue (attribut) True congénital Inferred relationship Some 1
Glycogen storage disease due to lactate dehydrogenase deficiency survenue (attribut) True congénital Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency survenue (attribut) True congénital Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome survenue (attribut) True congénital Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease survenue (attribut) True congénital Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease survenue (attribut) True congénital Inferred relationship Some 2
Mucopolysaccharidosis-like plus disease survenue (attribut) True congénital Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 2
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Stromme syndrome survenue (attribut) True congénital Inferred relationship Some 1
Witteveen Kolk syndrome survenue (attribut) True congénital Inferred relationship Some 1
Agenesis of scrotum (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Sugarman brachydactyly (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Sugarman brachydactyly (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Sugarman brachydactyly (disorder) survenue (attribut) True congénital Inferred relationship Some 3
SLC39A8 congenital disorder of glycosylation survenue (attribut) True congénital Inferred relationship Some 1
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Isolated generalized anhidrosis with normal sweat glands survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 74 survenue (attribut) False congénital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 74 survenue (attribut) False congénital Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 74 survenue (attribut) False congénital Inferred relationship Some 4
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital benign giant pigmented nevus of skin (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Tubulinopathy-associated dysgyria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Tubulinopathy-associated dysgyria (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Tubulinopathy-associated dysgyria (disorder) survenue (attribut) True congénital Inferred relationship Some 3
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Seizures, scoliosis, macrocephaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Short stature, brachydactyly, obesity, global developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 1
Short stature, brachydactyly, obesity, global developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 2
Short stature, brachydactyly, obesity, global developmental delay syndrome survenue (attribut) True congénital Inferred relationship Some 3
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital paraplegia survenue (attribut) True congénital Inferred relationship Some 2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome survenue (attribut) True congénital Inferred relationship Some 3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome survenue (attribut) True congénital Inferred relationship Some 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome survenue (attribut) True congénital Inferred relationship Some 2
Partially involuting congenital hemangioma (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital lordosis deformity of spine (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital lordosis and scoliosis deformity of spine (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Unilateral multicystic renal dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Unilateral multicystic renal dysplasia survenue (attribut) True congénital Inferred relationship Some 2
Glycogen storage disease due to aldolase A deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Neonatal jaundice with congenital hypothyroidism survenue (attribut) True congénital Inferred relationship Some 5
Deficiency of galactose mutarotase survenue (attribut) True congénital Inferred relationship Some 1
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Reticular dysgenesis survenue (attribut) True congénital Inferred relationship Some 3
Severe combined immunodeficiency with reticular dysgenesis (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Wiskott-Aldrich autosomal dominant variant syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Reticular dysgenesis with congenital aleucocytosis survenue (attribut) True congénital Inferred relationship Some 4
PEX5 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX6 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Beta chain electron transfer flavoprotein deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Alpha chain electron transfer flavoprotein deficiency survenue (attribut) True congénital Inferred relationship Some 1
Severe infantile form of carnitine palmitoyltransferase II deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX1 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX10 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX13 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX12 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX16 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX14 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX26 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX3 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX19 deficiency survenue (attribut) True congénital Inferred relationship Some 1
PEX2 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Non-syndromic mitochondrial sensorineural deafness (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Neonatal form of carnitine palmitoyltransferase II deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Myopathic form of carnitine palmitoyltransferase II deficiency survenue (attribut) True congénital Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Basel Vanagaite Smirin Yosef syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial respiratory chain complex IV assembly gene defect (disorder) survenue (attribut) True congénital Inferred relationship Some 1

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