771308008: Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disorder of anterior pituitary\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disorder of anterior pituitary\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \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\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Panhypopituitarism\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
• \Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705578019	Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3705579010	Non-acquired combined pituitary hormone deficiency, deafness, rigid cervical spine syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3705580013	Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3705581012	A rare genetic non-acquired combined pituitary hormone deficiency disorder with characteristics of panhypopituitarism (with or without adrenocorticotropic hormone deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. There is evidence this disease is caused by homozygous mutation in the LHX3 gene on chromosome 9q34.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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