18200000: autosomaal recessieve geïsoleerde deficiëntie van groeihormoon (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

\Disease\Disorder of body system\Disorder of endocrine system\Short stature co-occurrent and due to endocrine disorder (disorder)\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency (disorder)\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

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
Autosomal recessive isolated somatotropin deficiency	Is a	Pituitary dwarfism	true	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Is a	Isolated somatotropin deficiency	true	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Finding site	Pars anterior of pituitary gland	false	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Associated morphology	Congenital deficiency	false	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	1
Autosomal recessive isolated somatotropin deficiency	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Autosomal recessive isolated somatotropin deficiency	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive isolated somatotropin deficiency	Due to	Growth hormone deficiency (disorder)	true	Inferred relationship	Some	2
Autosomal recessive isolated somatotropin deficiency	Interprets	Height / growth measure	true	Inferred relationship	Some	3

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
30739018	Autosomal recessive isolated somatotropin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30740016	Isolated growth hormone deficiency type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
30741017	Pituitary dwarfism type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
745590012	Autosomal recessive isolated somatotropin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
577061000146111	autosomaal recessieve geïsoleerde deficiëntie van somatotropine	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
577071000146117	autosomaal recessieve geïsoleerde deficiëntie van groeihormoon (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
590471000146116	autosomaal recessieve geïsoleerde groeihormoondeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
591241000146118	autosomaal recessieve geïsoleerde deficiëntie van groeihormoon	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12496461000146116	autosomaal recessieve geïsoleerde GH-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)