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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
D-2-hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
D-2-hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 2
L-2-hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
L-2-hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Neonatal adrenoleukodystrophy survenue (attribut) True congénital Inferred relationship Some 1
Acyl-coenzyme A oxidase deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Pituitary thyroid hormone resistance survenue (attribut) True congénital Inferred relationship Some 1
Thyrotoxicosis due to pituitary thyroid hormone resistance survenue (attribut) True congénital Inferred relationship Some 1
Hereditary disorder of endocrine system (disorder) survenue (attribut) False congénital Inferred relationship Some 1
2-hydroxyglutaric aciduria survenue (attribut) True congénital Inferred relationship Some 1
2-hydroxyglutaric aciduria survenue (attribut) True congénital Inferred relationship Some 2
Familial isolated pituitary adenoma survenue (attribut) False congénital Inferred relationship Some 2
Hyperparathyroidism-jaw tumor syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Pseudoprimary hyperaldosteronism (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Hypomagnesemia with secondary hypocalcemia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hypomagnesemia with secondary hypocalcemia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Familial aldosterone deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Hereditary glucocorticoid resistance (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Choroideremia co-occurrent with hypopituitarism (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Choroideremia co-occurrent with hypopituitarism (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
hyperinsulinisme induit par l'effort survenue (attribut) False congénital Inferred relationship Some 1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hyperinsulinism due to deficiency of glucokinase (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of leukotriene C4 synthase (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Deficiency of leukotriene C4 synthase (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Hyperinsulinism and hyperammonemia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Combined pituitary hormone deficiency genetic form (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Familial thyroid dyshormonogenesis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Peripheral resistance to thyroid hormone (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deafness and hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deafness and hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
X-linked intellectual disability Van Esch type (disorder) survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability Cilliers type (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Syndromic X-linked intellectual disability type 7 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Primary pigmented nodular adrenocortical disease (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
X-linked intellectual disability with precocious puberty and obesity syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie survenue (attribut) False congénital Inferred relationship Some 1
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie survenue (attribut) False congénital Inferred relationship Some 2
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie survenue (attribut) False congénital Inferred relationship Some 3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lymphedema hypoparathyroidism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lymphedema hypoparathyroidism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Multiple endocrine neoplasia type 2A (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Hydrocephalus with obesity and hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hyperinsulinism due to insulin receptor deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Kallman syndrome with heart disease (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Kallman syndrome with heart disease (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome survenue (attribut) True congénital Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Paraganglioma and gastric stromal sarcoma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Paraganglioma and gastric stromal sarcoma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Retinohepatoendocrinologic syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Retinohepatoendocrinologic syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Retinohepatoendocrinologic syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) survenue (attribut) False congénital Inferred relationship Some 6
Laminopathy type Decaudain Vigouroux (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pyridoxal 5-phosphate dependent epilepsy (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Amino acid transport disorder survenue (attribut) False congénital Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Familial male-limited precocious puberty (disorder) survenue (attribut) False congénital Inferred relationship Some 4

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