237839005: Growth hormone receptor abnormality (disorder)

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

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

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

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

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

Descriptions:

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Growth hormone receptor abnormality	Is a	Laron-type isolated somatotropin defect	true	Inferred relationship	Some
Growth hormone receptor abnormality	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Growth hormone receptor abnormality	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
Growth hormone receptor abnormality	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Growth hormone receptor abnormality	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Growth hormone receptor abnormality	Finding site	Pars anterior of pituitary gland	false	Inferred relationship	Some
Growth hormone receptor abnormality	Finding site	Adenohypophysis structure	false	Inferred relationship	Some
Growth hormone receptor abnormality	Occurrence	Congenital	false	Inferred relationship	Some
Growth hormone receptor abnormality	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Growth hormone receptor abnormality	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set