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783098009: Short stature due to partial growth hormone receptor deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757576010 Short stature due to partial growth hormone receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757577018 Short stature due to partial growth hormone receptor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757578011 Short stature due to partial GHR (growth hormone receptor) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757579015 A rare genetic endocrine disease with characteristics of idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. There is evidence the disease is caused by heterozygous mutation in the growth hormone receptor gene (GHR) on chromosome 5p13-p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature due to partial growth hormone receptor deficiency est un(e) (attribut) Short stature co-occurrent and due to endocrine disorder (disorder) true Inferred relationship Some
Short stature due to partial growth hormone receptor deficiency Due to Partial growth hormone deficiency true Inferred relationship Some 2
Short stature due to partial growth hormone receptor deficiency Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Short stature due to partial growth hormone receptor deficiency localisation d'une constatation (attribut) Structure of endocrine system (body structure) true Inferred relationship Some 1
Short stature due to partial growth hormone receptor deficiency interprète (attribut) Height / growth measure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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