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

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

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)

\Neurological lesion\Lesion of brain\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)

\Central nervous system finding\Finding of brain\Lesion of brain\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)

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

\Finding of brain\Lesion of brain\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)

\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Degenerative disorder\Calcinosis\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Limbic disorder\Disorder of hypothalamus (disorder)\Disorder of pituitary gland\Disorder of posterior pituitary\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)
\Disease\Metabolic disease\Metabolic disorder of transport\Diabetes insipidus\Nephrogenic diabetes insipidus\Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3305068016 Nephrogenic diabetes insipidus and intracranial calcification syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305069012 Schofer Beetz Bohl syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3864851000052111 Schofer-Beetz-Bohls syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Is a	Nephrogenic diabetes insipidus	true	Inferred relationship	Some
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Is a	förkalkning utanför skelettet	false	Inferred relationship	Some
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Is a	Lesion of brain	true	Inferred relationship	Some
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Finding site	Neurohypophysis structure	true	Inferred relationship	Some	2
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Finding site	Renal tubule structure (body structure)	true	Inferred relationship	Some	1
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	3
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	3
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Is a	Degenerative disease of the central nervous system	true	Inferred relationship	Some
Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	Is a	Calcinosis	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305067014	Nephrogenic diabetes insipidus and intracranial calcification syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305068016	Nephrogenic diabetes insipidus and intracranial calcification syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305069012	Schofer Beetz Bohl syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3864851000052111	Schofer-Beetz-Bohls syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)