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

SNOMED CT Concept\Clinical finding\...

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome
\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
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Nephrosis, deafness, urinary tract, digital malformation syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Nephrosis, deafness, urinary tract, digital malformation syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Nephrosis, deafness, urinary tract, digital malformation syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3430564013 Nephrosis, deafness, urinary tract, digital malformation syndrome en Synonym Active Case insensitive SNOMED CT core

3430565014 Braun Bayer syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3430563019	Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3430564013	Nephrosis, deafness, urinary tract, digital malformation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3430565014	Braun Bayer syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core