FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.7  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Moderate steroid 21-hydroxylase deficiency Occurrence True Congenital Inferred relationship Some 1
Hereditary nephrogenic diabetes insipidus Occurrence True Congenital Inferred relationship Some 1
Hereditary nephrogenic diabetes insipidus Occurrence True Congenital Inferred relationship Some 2
Multiple endocrine neoplasia, type 3 Occurrence False Congenital Inferred relationship Some 2
Multiple endocrine neoplasia, type 3 Occurrence False Congenital Inferred relationship Some 3
Multiple endocrine neoplasia, type 2 Occurrence False Congenital Inferred relationship Some 2
Thyroglobulin synthesis defect Occurrence True Congenital Inferred relationship Some 1
Adrenoleucodystrophy Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant excess of transthyretin Occurrence True Congenital Inferred relationship Some 1
Pendred's syndrome Occurrence True Congenital Inferred relationship Some 1
Hereditary adrenal unresponsiveness to corticotropin Occurrence True Congenital Inferred relationship Some 1
X-linked variant form of thyroxine-binding globulin Occurrence True Congenital Inferred relationship Some 1
Hereditary vitamin D dependency syndrome Occurrence False Congenital Inferred relationship Some 1
Sotos' syndrome Occurrence True Congenital Inferred relationship Some 1
Thyroxine plasma membrane transport defect Occurrence True Congenital Inferred relationship Some 1
Beckwith-Wiedemann syndrome Occurrence False Congenital Inferred relationship Some 5
Iodide peroxidase defect Occurrence True Congenital Inferred relationship Some 1
Pseudohypoaldosteronism, type 1, dominant form Occurrence False Congenital Inferred relationship Some 1
Pseudohypoaldosteronism, type 1, recessive form Occurrence False Congenital Inferred relationship Some 1
Hypogonadism with anosmia Occurrence True Congenital Inferred relationship Some 1
Refetoff syndrome Occurrence True Congenital Inferred relationship Some 1
Hypogonadism with prune belly syndrome Occurrence True Congenital Inferred relationship Some 1
Hypogonadism with prune belly syndrome Occurrence False Congenital Inferred relationship Some 2
Hypothyroidism due to iodide organification defect Occurrence True Congenital Inferred relationship Some 1
Thyroid hormone resistance syndrome Occurrence True Congenital Inferred relationship Some 1
Generalised thyroid hormone resistance Occurrence True Congenital Inferred relationship Some 1
D-2(OH) glutaric aciduria Occurrence True Congenital Inferred relationship Some 1
D-2(OH) glutaric aciduria Occurrence True Congenital Inferred relationship Some 2
L-2(OH) glutaric aciduria Occurrence True Congenital Inferred relationship Some 1
L-2(OH) glutaric aciduria Occurrence True Congenital Inferred relationship Some 2
Neonatal adrenoleucodystrophy Occurrence True Congenital Inferred relationship Some 1
Acyl-CoA oxidase deficiency Occurrence False Congenital Inferred relationship Some 1
Pituitary thyroid hormone resistance Occurrence True Congenital Inferred relationship Some 1
Thyrotoxicosis due to pituitary thyroid hormone resistance Occurrence True Congenital Inferred relationship Some 1
Hereditary disorder of endocrine system Occurrence False Congenital Inferred relationship Some 1
2-hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 1
2-hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 2
Familial isolated pituitary adenoma Occurrence False Congenital Inferred relationship Some 2
Hyperparathyroidism-jaw tumour syndrome Occurrence False Congenital Inferred relationship Some 1
Pseudoprimary hyperaldosteronism Occurrence False Congenital Inferred relationship Some 1
Hypomagnesaemia with secondary hypocalcaemia Occurrence True Congenital Inferred relationship Some 1
Hypomagnesaemia with secondary hypocalcaemia Occurrence True Congenital Inferred relationship Some 2
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 1
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 2
Familial hypoaldosteronism Occurrence False Congenital Inferred relationship Some 1
Hereditary glucocorticoid resistance Occurrence True Congenital Inferred relationship Some 1
Choroideraemia hypopituitarism Occurrence False Congenital Inferred relationship Some 1
Choroideraemia hypopituitarism Occurrence False Congenital Inferred relationship Some 2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Exercise-induced hyperinsulinism Occurrence False Congenital Inferred relationship Some 1
Boucher Neuhäuser syndrome Occurrence False Congenital Inferred relationship Some 1
Boucher Neuhäuser syndrome Occurrence False Congenital Inferred relationship Some 2
Boucher Neuhäuser syndrome Occurrence False Congenital Inferred relationship Some 4
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome Occurrence False Congenital Inferred relationship Some 1
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome Occurrence False Congenital Inferred relationship Some 4
Familial non-autoimmune autosomal dominant hyperthyroidism Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant hyperinsulinism due to SUR1 deficiency Occurrence True Congenital Inferred relationship Some 1
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Occurrence True Congenital Inferred relationship Some 1
Hyperinsulinism due to glucokinase deficiency Occurrence True Congenital Inferred relationship Some 1
Deficiency of leukotriene C4 synthase Occurrence False Congenital Inferred relationship Some 1
Deficiency of leukotriene C4 synthase Occurrence False Congenital Inferred relationship Some 2
Hyperinsulinism and hyperammonaemia syndrome Occurrence True Congenital Inferred relationship Some 1
Combined pituitary hormone deficiency genetic form Occurrence True Congenital Inferred relationship Some 1
Familial thyroid dyshormonogenesis Occurrence True Congenital Inferred relationship Some 1
Peripheral resistance to thyroid hormone Occurrence True Congenital Inferred relationship Some 1
Hypothyroidism due to mutation in transcription factor of pituitary development Occurrence True Congenital Inferred relationship Some 1
Deafness and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Deafness and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Occurrence False Congenital Inferred relationship Some 1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Occurrence False Congenital Inferred relationship Some 2
X-linked intellectual disability Van Esch type Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability Cilliers type Occurrence False Congenital Inferred relationship Some 1
Syndromic X-linked intellectual disability type 7 Occurrence True Congenital Inferred relationship Some 1
Primary pigmented nodular adrenocortical disease Occurrence False Congenital Inferred relationship Some 2
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Occurrence False Congenital Inferred relationship Some 1
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Occurrence False Congenital Inferred relationship Some 3
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 3
X-linked intellectual disability with precocious puberty and obesity syndrome Occurrence False Congenital Inferred relationship Some 1
X-linked intellectual disability with acromegaly and hyperactivity syndrome Occurrence False Congenital Inferred relationship Some 1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Occurrence False Congenital Inferred relationship Some 1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Occurrence False Congenital Inferred relationship Some 2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Occurrence False Congenital Inferred relationship Some 3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Dahlberg Borer Newcomer syndrome Occurrence True Congenital Inferred relationship Some 1
Dahlberg Borer Newcomer syndrome Occurrence True Congenital Inferred relationship Some 2
Multiple endocrine neoplasia type 2A Occurrence False Congenital Inferred relationship Some 2
Hydrocephalus with obesity and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Hyperinsulinism due to HNF1A deficiency Occurrence True Congenital Inferred relationship Some 1
Hyperinsulinism due to insulin receptor deficiency Occurrence False Congenital Inferred relationship Some 1
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Hyperinsulinism due to uncoupling protein 2 deficiency Occurrence True Congenital Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Occurrence True Congenital Inferred relationship Some 1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Occurrence True Congenital Inferred relationship Some 2
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Occurrence True Congenital Inferred relationship Some 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Occurrence True Congenital Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Occurrence False Congenital Inferred relationship Some 2
Intellectual disability, balding, patella luxation, acromicria syndrome Occurrence True Congenital Inferred relationship Some 1
Kallman syndrome with heart disease Occurrence True Congenital Inferred relationship Some 1
Kallman syndrome with heart disease Occurrence True Congenital Inferred relationship Some 2

Start Previous Page 273 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start