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725036000: Familial isolated hypoparathyroidism (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3482362015 Familial isolated hypoparathyroidism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3482363013 Familial isolated hypoparathyroidism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403366014 A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403367017 A rare heterogeneous group of metabolic disorders characterised by abnormal calcium metabolism causing hypocalcaemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial isolated hypoparathyroidism (disorder) Is a Hypoparathyroidism true Inferred relationship Some
Familial isolated hypoparathyroidism (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Familial isolated hypoparathyroidism (disorder) Has definitional manifestation Decreased hormone secretion false Inferred relationship Some
Familial isolated hypoparathyroidism (disorder) Is a Decreased hormone secretion false Inferred relationship Some
Familial isolated hypoparathyroidism (disorder) Interprets Evaluation procedure (procedure) false Inferred relationship Some 3
Familial isolated hypoparathyroidism (disorder) Has interpretation Decreased true Inferred relationship Some 4
Familial isolated hypoparathyroidism (disorder) Interprets Hormone secretion true Inferred relationship Some 4
Familial isolated hypoparathyroidism (disorder) Occurrence Congenital false Inferred relationship Some 5
Familial isolated hypoparathyroidism (disorder) Finding site Parathyroid structure false Inferred relationship Some 5
Familial isolated hypoparathyroidism (disorder) Interprets Endocrine observable false Inferred relationship Some 3
Familial isolated hypoparathyroidism (disorder) Finding site Parathyroid structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder) Is a True Familial isolated hypoparathyroidism (disorder) Inferred relationship Some
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) Is a True Familial isolated hypoparathyroidism (disorder) Inferred relationship Some
Autosomal dominant familial isolated hypoparathyroidism Is a False Familial isolated hypoparathyroidism (disorder) Inferred relationship Some
Autosomal recessive familial isolated hypoparathyroidism Is a False Familial isolated hypoparathyroidism (disorder) Inferred relationship Some
Autosomal dominant hypocalcemia (disorder) Is a True Familial isolated hypoparathyroidism (disorder) Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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