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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
482239011 Hereditary disorder of endocrine systen en Synonym Inactive Initial character case insensitive SNOMED CT core
754890018 Hereditary disorder of endocrine systen (disorder) en Fully specified name Inactive Initial character 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
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial male-limited precocious puberty Is a True Hereditary disorder of endocrine system Inferred relationship Some
Resistance to thyrotropin-releasing hormone syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy Is a True Hereditary disorder of endocrine system Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Thyrocerebrorenal syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Stimmler syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Carney complex Is a True Hereditary disorder of endocrine system Inferred relationship Some
Mikati Najjar Sahli syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Wolfram-like syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Pyridoxine-dependent epilepsy Is a True Hereditary disorder of endocrine system Inferred relationship Some
Hypogonadism, diabetes mellitus, alopecia, intellectual disability and ECG abnormalities Is a False Hereditary disorder of endocrine system Inferred relationship Some
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Hereditary disorder of endocrine system Inferred relationship Some
Isolated follicle stimulating hormone deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Adrenomyodystrophy Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial hyperprolactinaemia Is a True Hereditary disorder of endocrine system Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Familial glucocorticoid deficiency Is a False Hereditary disorder of endocrine system Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Hereditary disorder of endocrine system Inferred relationship Some
Short stature due to growth hormone secretagogue receptor deficiency Is a True Hereditary disorder of endocrine system Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome 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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