237839005: afwijking van groeihormoonreceptor (aandoening)

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

\Body measurement finding\Height / growth 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

6222601000146114 afwijking van groeihormoonreceptor nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6222611000146111 afwijking van groeihormoonreceptor (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6222621000146118 afwijking van GH-receptor nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	gebrekkige ontwikkeling (afwijkende morfologie)	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