240391000146109: syndroom van albinisme met doofheid bij man (aandoening)

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

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome

\Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Functional finding\Finding of sensory function\Disorder of sensory function (disorder)\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Functional finding\Finding of sensory function\Hearing finding (finding)\Decreased hearing (finding)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Male albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Male albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Male albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Male albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of pigmentation (disorder)\Albinism\Male albinism with deafness syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Albinism\Male albinism with deafness syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Male albinism with deafness syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Albinism\Male albinism with deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Male albinism with deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Male albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Male albinism with deafness syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Male albinism with deafness syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome (disorder)\Male albinism with deafness syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Male albinism with deafness syndrome
\Disease\Developmental disorder\Congenital malformation\Albinism\Male albinism with deafness syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2023. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Male albinism with deafness syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Male albinism with deafness syndrome	Is a	Albinism	true	Inferred relationship	Some
Male albinism with deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Male albinism with deafness syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	4
Male albinism with deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Male albinism with deafness syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Some	1
Male albinism with deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Male albinism with deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Male albinism with deafness syndrome	Finding site	Vestibulocochlear nerve structure	true	Inferred relationship	Some	2
Male albinism with deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Male albinism with deafness syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Male albinism with deafness syndrome	Is a	Albinism with deafness syndrome (disorder)	true	Inferred relationship	Some

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
13860931000146117	Male albinism with deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13860941000146113	Male albinism with deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13860911000146112	albinisme-doofheid-syndroom bij man	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13860921000146119	syndroom van albinisme met doofheid bij man (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13860951000146111	syndroom van albinisme met doofheid bij man	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)