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766817004: Short stature due to growth hormone secretagogue receptor deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662719015 Short stature due to GHSR (growth hormone secretagogue receptor) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3662720014 Short stature due to growth hormone secretagogue receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662721013 Short stature due to growth hormone secretagogue receptor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662722018 Short stature due to GHSR deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3662723011 Ghrelin receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662724017 A rare genetic endocrine growth disease resulting from growth hormone secretagogue receptor (GHSR) deficiency. The disease has characteristics of postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. 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 growth hormone secretagogue receptor deficiency Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Short stature due to growth hormone secretagogue receptor deficiency est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Short stature due to growth hormone secretagogue receptor deficiency interprète (attribut) Height / growth measure true Inferred relationship Some 4
Short stature due to growth hormone secretagogue receptor deficiency Due to Hypopituitarism true Inferred relationship Some 2
Short stature due to growth hormone secretagogue receptor deficiency survenue (attribut) congénital false Inferred relationship Some 1
Short stature due to growth hormone secretagogue receptor deficiency est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Short stature due to growth hormone secretagogue receptor deficiency est un(e) (attribut) Short stature co-occurrent and due to endocrine disorder (disorder) true Inferred relationship Some
Short stature due to growth hormone secretagogue receptor deficiency est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Short stature due to growth hormone secretagogue receptor deficiency localisation d'une constatation (attribut) Structure of endocrine system (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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