18200000: Autosomal recessive isolated somatotropin deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...

\Hypopituitarism\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency

\Disorder of anterior pituitary\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...

\Hypopituitarism\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency

\Disorder of anterior pituitary\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

\General finding of observation of patient\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\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\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\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency\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\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\Neurological disorder\Disorder of the central nervous system\Central nervous system complication\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Growth hormone deficiency\Isolated somatotropin deficiency\Autosomal recessive isolated somatotropin deficiency
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\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\Pituitary dwarfism\Autosomal recessive isolated somatotropin deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

30739018 Autosomal recessive isolated somatotropin deficiency en Synonym Active Case insensitive SNOMED CT core

30740016 Isolated growth hormone deficiency type I en Synonym Active Initial character case insensitive SNOMED CT core

30741017 Pituitary dwarfism type I en Synonym Active Initial character case insensitive SNOMED CT core

745590012 Autosomal recessive isolated somatotropin deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive isolated somatotropin deficiency	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Autosomal recessive isolated somatotropin deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive isolated somatotropin deficiency	Due to	Growth hormone deficiency	true	Inferred relationship	Some	2
Autosomal recessive isolated somatotropin deficiency	Interprets	Height / growth measure	true	Inferred relationship	Some	3
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	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Some	1
Autosomal recessive isolated somatotropin deficiency	Finding site	Entire endocrine gonad	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	false	Inferred relationship	Some
Autosomal recessive isolated somatotropin deficiency	Associated morphology	Congenital deficiency	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
30739018	Autosomal recessive isolated somatotropin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
30740016	Isolated growth hormone deficiency type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
30741017	Pituitary dwarfism type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
745590012	Autosomal recessive isolated somatotropin deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core