766817004: kleine gestalte door 'growth hormone secretagogue'-receptordeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\Short stature due to growth hormone secretagogue receptor deficiency

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\Short stature due to growth hormone secretagogue receptor deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Short stature due to growth hormone secretagogue receptor deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature due to growth hormone secretagogue receptor deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Short stature due to growth hormone secretagogue receptor deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Short stature due to growth hormone secretagogue receptor deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Short stature co-occurrent and due to endocrine disorder (disorder)\Short stature due to growth hormone secretagogue receptor deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Short stature due to growth hormone secretagogue receptor deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature due to growth hormone secretagogue receptor deficiency
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\Short stature due to growth hormone secretagogue receptor deficiency

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Occurrence	Congenital	false	Inferred relationship	Some	1
Short stature due to growth hormone secretagogue receptor deficiency	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Short stature due to growth hormone secretagogue receptor deficiency	Is a	Short stature co-occurrent and due to endocrine disorder (disorder)	true	Inferred relationship	Some
Short stature due to growth hormone secretagogue receptor deficiency	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Short stature due to growth hormone secretagogue receptor deficiency	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	1
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	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature due to growth hormone secretagogue receptor deficiency	Interprets	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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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
6539311000146117	kleine gestalte door '‘growth hormone secretagogue'-receptordeficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6539321000146110	kleine gestalte door ghrelinereceptordeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6539331000146112	kleine gestalte door '‘growth hormone secretagogue'-receptordeficiëntie (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6539341000146116	kleine gestalte door GHSR-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13345081000146115	kleine gestalte door ''growth hormone secretagogue'-receptordeficiëntie (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13345091000146118	kleine gestalte door ''growth hormone secretagogue'-receptordeficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13440041000146112	kleine gestalte door 'growth hormone secretagogue'-receptordeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13440051000146110	kleine gestalte door 'growth hormone secretagogue'-receptordeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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