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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease 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\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease 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\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease 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\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease 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\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneal compartment\Kidney disease\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease 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\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Hypoparathyroidism, deafness, renal disease syndrome

\Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Hypoparathyroidism, deafness, renal disease syndrome

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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3433586013 Hypoparathyroidism, deafness, renal disease syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3433587016 Barakat syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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

3433589018 HDR syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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	SNOMED CT core module
3433586013	Hypoparathyroidism, deafness, renal disease syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3433587016	Barakat syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3433588014	HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3433589018	HDR syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module