237839005: Growth hormone receptor abnormality (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 abnormality (disorder)

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

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

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
356427012	Growth hormone receptor abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626624016	Growth hormone receptor abnormality (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356427012	Growth hormone receptor abnormality	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356427012	Growth hormone receptor abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626624016	Growth hormone receptor abnormality (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626624016	Growth hormone receptor abnormality (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6252211000241111	anomalie du récepteur de la somatotropine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6252221000241116	anomalie du 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
6252231000241119	anomalie du GHR (growth hormone receptor)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6252211000241111	anomalie du récepteur de la somatotropine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6252221000241116	anomalie du 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
6252231000241119	anomalie du GHR (growth hormone receptor)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module