724282009: Hypoparathyroidism, deafness, renal disease syndrome (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease 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\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease 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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease 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 urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease 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 urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease 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\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease 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\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)

\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome (disorder)

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 10 (disorder)\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Deletion of part of chromosome 10 (disorder)\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 10 (disorder)\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Deletion of part of chromosome 10 (disorder)\10p partial monosomy syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Hypoparathyroidism, deafness, renal disease syndrome (disorder)
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3433585012 Hypoparathyroidism, deafness, renal disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3433586013 Hypoparathyroidism, deafness, renal disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3433587016 Barakat syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3433588014 HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3433589018 HDR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403302013 Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403303015 Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterised by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	10p partial monosomy syndrome	true	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Hypoparathyroidism	true	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	7
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Has definitional manifestation	Decreased hormone secretion	false	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	6
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	8
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	9
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	10
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	11
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Finding site	Chromosome pair 10 (cell structure)	true	Inferred relationship	Some	9
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	9
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Finding site	Parathyroid structure	true	Inferred relationship	Some	10
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Finding site	Chromosome pair 10 (cell structure)	true	Inferred relationship	Some	8
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	8
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Finding site	Kidney structure	true	Inferred relationship	Some	11
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	5
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Interprets	Hormone secretion	true	Inferred relationship	Some	5
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Decline in functional status (finding)	false	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	7
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	Is a	Decreased hormone secretion	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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US English

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Id	Description	Lang	Type	Status	Case?	Module
3433585012	Hypoparathyroidism, deafness, renal disease syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433586013	Hypoparathyroidism, deafness, renal disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433587016	Barakat syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433588014	HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433589018	HDR syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403302013	Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403303015	Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterised by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core