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716743006: Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3307392015 Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3307393013 Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor en Synonym Active Case insensitive SNOMED CT core
3307394019 Familial non-immune hyperthyroidism en Synonym Active Case insensitive SNOMED CT core
3307395018 Familial non-autoimmune autosomal dominant hyperthyroidism en Synonym Active Case insensitive SNOMED CT core
3307396017 A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. en Definition Active Case sensitive SNOMED CT core
3307397014 A rare hyperthyroidism characterised by mild to severe hyperthyroidism, presence of goitre, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial non-autoimmune autosomal dominant hyperthyroidism Due to Thyroid hormone responsiveness defect true Inferred relationship Some 2
Familial non-autoimmune autosomal dominant hyperthyroidism Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Familial non-autoimmune autosomal dominant hyperthyroidism Is a Hyperthyroidism true Inferred relationship Some
Familial non-autoimmune autosomal dominant hyperthyroidism Is a Hereditary disorder of endocrine system true Inferred relationship Some
Familial non-autoimmune autosomal dominant hyperthyroidism Finding site Thyroid structure false Inferred relationship Some
Familial non-autoimmune autosomal dominant hyperthyroidism Occurrence Congenital false Inferred relationship Some 1
Familial non-autoimmune autosomal dominant hyperthyroidism Finding site Thyroid structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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