724092009: Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)

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

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Nephrosis, deafness, urinary tract, digital malformation 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

3430563019 Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3430564013 Nephrosis, deafness, urinary tract, digital malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3430565014 Braun Bayer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3430566010 Syndrome with characteristics of variable anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5164121000172116 syndroom van nefrose, doofheid en misvormingen van urinewegen en van digitus I van hand en van voet nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5164131000172118 syndroom van Braun-Bayer nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3430563019	Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3430564013	Nephrosis, deafness, urinary tract, digital malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3430565014	Braun Bayer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3430566010	Syndrome with characteristics of variable anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5164121000172116	syndroom van nefrose, doofheid en misvormingen van urinewegen en van digitus I van hand en van voet	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5164131000172118	syndroom van Braun-Bayer	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)