716200002: Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...
• \Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Neurological lesion\Lesion of brain\Schofer Beetz Bohl syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Schofer Beetz Bohl syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Schofer Beetz Bohl syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Schofer Beetz Bohl syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Lesion of brain\Schofer Beetz Bohl syndrome
• \Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disorder of head\Encephalopathy\...
• \Lesion of brain\Schofer Beetz Bohl syndrome
• \Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Schofer Beetz Bohl syndrome
• \Disease\Degenerative disorder\Calcinosis\Schofer Beetz Bohl syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Schofer Beetz Bohl syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Schofer Beetz Bohl syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Disorder of head\Encephalopathy\Lesion of brain\Schofer Beetz Bohl syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Posterior pituitary disorder\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Metabolic disease\Metabolic disorder of transport\Diabetes insipidus\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome
• \Disease\Metabolic disease\Metabolic renal disease\Nephrogenic diabetes insipidus\Schofer Beetz Bohl syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305067014	Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305068016	Nephrogenic diabetes insipidus and intracranial calcification syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305069012	Schofer Beetz Bohl syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3305070013	This syndrome has characteristics of nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. It has been described in two siblings.	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

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