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363104002: Hereditary disorder of endocrine system (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
1763650015 Hereditary disorder of endocrine system (disorder) en Fully specified name Active Case insensitive SNOMED CT core
1775969014 Hereditary disorder of endocrine system en Synonym Active Case insensitive SNOMED CT core

277 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of endocrine system Is a Disorder of endocrine system true Inferred relationship Some
Hereditary disorder of endocrine system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of endocrine system Is a Congenital disease false Inferred relationship Some
Hereditary disorder of endocrine system Occurrence Congenital false Inferred relationship Some 1
Hereditary disorder of endocrine system Finding site Structure of endocrine system true Inferred relationship Some 1
Hereditary disorder of endocrine system Finding site Structure of endocrine system false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Corticosterone 18-monooxygenase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
17 alpha-Hydroxyprogesterone aldolase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
Testosterone 17-beta-dehydrogenase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
Transient neonatal hyperglycinaemia Is a False Hereditary disorder of endocrine system Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilising type Is a False Hereditary disorder of endocrine system Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
Moderate steroid 21-hydroxylase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a True Hereditary disorder of endocrine system Inferred relationship Some
Adrenoleucodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
Multiple endocrine neoplasia, type 3 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Autosomal dominant excess of transthyretin Is a False Hereditary disorder of endocrine system Inferred relationship Some
Benign neonatal hyperaminoaciduria Is a False Hereditary disorder of endocrine system Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary vitamin D dependency syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Some
Transient neonatal hypertyrosinaemia Is a False Hereditary disorder of endocrine system Inferred relationship Some
Congenital adrenal hypoplasia, X-linked Is a True Hereditary disorder of endocrine system Inferred relationship Some
Neonatal hyperhistidinaemia Is a False Hereditary disorder of endocrine system Inferred relationship Some
Pseudohypoaldosteronism, type 1, dominant form Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pseudohypoaldosteronism, type 1, recessive form Is a True Hereditary disorder of endocrine system Inferred relationship Some
Simpson-Golabi-Behmel syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Some
21-hydroxylase deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
WNT4 Mullerian aplasia and ovarian dysfunction Is a True Hereditary disorder of endocrine system Inferred relationship Some
2-hydroxyglutaric aciduria Is a True Hereditary disorder of endocrine system Inferred relationship Some
Beckwith-Wiedemann syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Multiple endocrine neoplasia, type 2 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Sotos' syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Multiple endocrine neoplasia, type 1 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial isolated pituitary adenoma Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperparathyroidism-jaw tumour syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypogonadism with prune belly syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Congenital adrenal hyperplasia Is a True Hereditary disorder of endocrine system Inferred relationship Some
Homozygous methylenetetrahydrofolate reductase mutation Is a True Hereditary disorder of endocrine system Inferred relationship Some
Heterozygous methylenetetrahydrofolate reductase mutation Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypomagnesaemia with secondary hypocalcaemia Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pseudoprimary hyperaldosteronism Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial hypoaldosteronism Is a True Hereditary disorder of endocrine system Inferred relationship Some
Exercise-induced hyperinsulinism Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary glucocorticoid resistance Is a True Hereditary disorder of endocrine system Inferred relationship Some
Choroideraemia hypopituitarism Is a False Hereditary disorder of endocrine system Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Boucher Neuhäuser syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial non-autoimmune autosomal dominant hyperthyroidism Is a True Hereditary disorder of endocrine system Inferred relationship Some
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Autosomal dominant hyperinsulinism due to SUR1 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperinsulinism due to glucokinase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Deficiency of leukotriene C4 synthase Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Combined pituitary hormone deficiency genetic form Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial thyroid dyshormonogenesis Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypothyroidism due to mutation in transcription factor of pituitary development Is a True Hereditary disorder of endocrine system Inferred relationship Some
Deafness and hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
X-linked intellectual disability Van Esch type Is a True Hereditary disorder of endocrine system Inferred relationship Some
X-linked intellectual disability Cilliers type Is a True Hereditary disorder of endocrine system Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a True Hereditary disorder of endocrine system Inferred relationship Some
Primary pigmented nodular adrenocortical disease Is a True Hereditary disorder of endocrine system Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
X-linked intellectual disability with precocious puberty and obesity syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion Is a True Hereditary disorder of endocrine system Inferred relationship Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Dahlberg Borer Newcomer syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperinsulinism due to HNF1A deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hyperinsulinism due to uncoupling protein 2 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Hereditary disorder of endocrine system Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypogonadism with anosmia Is a False Hereditary disorder of endocrine system Inferred relationship Some
Bamforth Lazarus syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Carney Stratakis syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Multinodular goitre, cystic kidney, polydactyly syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
SERKAL syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
RHYNS syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Retinohepatoendocrinologic syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial isolated hypoparathyroidism Is a True Hereditary disorder of endocrine system Inferred relationship Some
46,XY partial gonadal dysgenesis Is a True Hereditary disorder of endocrine system Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Laminopathy type Decaudain Vigouroux Is a False Hereditary disorder of endocrine system Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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