718182008: Combined pituitary hormone deficiency genetic form (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Combined pituitary hormone deficiency genetic form
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Combined pituitary hormone deficiency genetic form
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Combined pituitary hormone deficiency genetic form
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Combined pituitary hormone deficiency genetic form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Combined pituitary hormone deficiency genetic form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Combined pituitary hormone deficiency genetic form
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Combined pituitary hormone deficiency genetic form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Combined pituitary hormone deficiency genetic form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Combined pituitary hormone deficiency genetic form
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Combined pituitary hormone deficiency genetic form
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Combined pituitary hormone deficiency genetic form
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Combined pituitary hormone deficiency genetic form
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Combined pituitary hormone deficiency genetic form
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Combined pituitary hormone deficiency genetic form
• \Disease\Congenital disease\Combined pituitary hormone deficiency genetic form

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311172019	Familial congenital hypopituitarism	en	Synonym	Active	Case insensitive	SNOMED CT core
3311175017	Combined pituitary hormone deficiency genetic form (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3311409015	Combined pituitary hormone deficiency genetic form	en	Synonym	Active	Case insensitive	SNOMED CT core
3311410013	Multiple pituitary hormone deficiency genetic form	en	Synonym	Active	Case insensitive	SNOMED CT core
3311171014	Congenital multiple pituitary hormone deficiency including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Rare when compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Clinical presentation is variable, depending on the type and severity of deficiencies and on the age at diagnosis. If untreated, main symptoms include short stature, cognitive alterations or delayed puberty. Due to mutations of several genes encoding pituitary transcription factors. A diagnosis must be suspected when evident causes of hypopituitarism have been ruled out. Type of transmission varies with the factor and the mutation involved.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start