237838002: Growth hormone receptor absent (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Laron-type isolated somatotropin defect\Growth hormone receptor absent

\Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Laron-type isolated somatotropin defect\Growth hormone receptor absent

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Laron-type isolated somatotropin defect\Growth hormone receptor absent
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Laron-type isolated somatotropin defect\Growth hormone receptor absent
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Laron-type isolated somatotropin defect\Growth hormone receptor absent
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Laron-type isolated somatotropin defect\Growth hormone receptor absent

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Growth hormone receptor absent	Is a	Laron-type isolated somatotropin defect	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth hormone receptor absent	Finding site	Pars anterior of pituitary gland	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth hormone receptor absent	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth hormone receptor absent	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth hormone receptor absent	Interprets	Nutritional deficiency state	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth hormone receptor absent	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth hormone receptor absent	Finding site	Adenohypophysis structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth hormone receptor absent	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Growth hormone receptor absent	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Growth hormone receptor absent	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
356426015	Growth hormone receptor absent	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626622017	Growth hormone receptor absent (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356426015	Growth hormone receptor absent	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356426015	Growth hormone receptor absent	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626622017	Growth hormone receptor absent (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626622017	Growth hormone receptor absent (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6302071000241110	absence de récepteur de l'hormone de croissance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6302081000241112	GHR (growth hormone receptor) absent	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6302091000241114	récepteur de la somatotropine absent	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6302071000241110	absence de récepteur de l'hormone de croissance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6302081000241112	GHR (growth hormone receptor) absent	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6302091000241114	récepteur de la somatotropine absent	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module