237838002: afwezigheid 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 absent

\Finding of general physiological development\Disorder of stature\Short stature 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\Developmental hereditary disorder\Laron-type isolated somatotropin defect\Growth hormone receptor absent
\Disease\Developmental disorder\Disorder of stature\Short stature 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:

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

6223121000146116 afwezigheid van groeihormoonreceptor nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6223131000146119 afwezigheid van groeihormoonreceptor (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6223141000146110 afwezigheid 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 absent	Is a	Laron-type isolated somatotropin defect	true	Inferred relationship	Some
Growth hormone receptor absent	Finding site	Pars anterior of pituitary gland	false	Inferred relationship	Some
Growth hormone receptor absent	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Growth hormone receptor absent	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some
Growth hormone receptor absent	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
Growth hormone receptor absent	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Growth hormone receptor absent	Finding site	Adenohypophysis structure	false	Inferred relationship	Some
Growth hormone receptor absent	Occurrence	Congenital	false	Inferred relationship	Some
Growth hormone receptor absent	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Growth hormone receptor absent	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets