722285005: syndroom van albinisme met doofheid (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)
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome (disorder)

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Albinism with deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Albinism with deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Albinism with deafness syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Albinism with deafness syndrome (disorder)
\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)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Albinism with deafness syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Albinism with deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Albinism with deafness syndrome (disorder)
\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)
\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)
\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)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Neural hearing loss\Albinism with deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Neural hearing loss\Albinism with deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Albinism with deafness syndrome (disorder)
\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)
\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)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Albinism with deafness syndrome (disorder)
\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)
\Disease\Disorder of soft tissue\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3331448012 Albinism with deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331449016 Albinism with deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6111651000146112 albinisme-doofheid-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6674481000146112 syndroom van albinisme met doofheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6674491000146114 syndroom van albinisme met doofheid (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3332023017 Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. 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
Albinism with deafness syndrome (disorder)	Is a	Congenital deficiency of pigment of skin	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Albinism	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Albinism with deafness syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Albinism with deafness syndrome (disorder)	Interprets	observatie betreffende functioneren	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Albinism with deafness syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Albinism with deafness syndrome (disorder)	Associated morphology	congenitale hypopigmentatie	false	Inferred relationship	Some	6
Albinism with deafness syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	6
Albinism with deafness syndrome (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	7
Albinism with deafness syndrome (disorder)	Is a	Genetic disorder of skin pigmentation (disorder)	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Albinism with deafness syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Albinism with deafness syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Albinism with deafness syndrome (disorder)	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	1
Albinism with deafness syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Albinism with deafness syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Albinism with deafness syndrome (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	4
Albinism with deafness syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Has interpretation	Impaired	false	Inferred relationship	Some	3
Albinism with deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Albinism with deafness syndrome (disorder)	Is a	X-linked sensorineural hearing loss	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Decreased hearing (finding)	true	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Neural hearing loss	true	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3
Albinism with deafness syndrome (disorder)	Finding site	Vestibulocochlear nerve structure	true	Inferred relationship	Some	1
Albinism with deafness syndrome (disorder)	Is a	Congenital hearing loss (disorder)	false	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	Congenital neurological disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Female albinism with deafness syndrome	Is a	True	Albinism with deafness syndrome (disorder)	Inferred relationship	Some
Male albinism with deafness syndrome	Is a	True	Albinism with deafness syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331448012	Albinism with deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331449016	Albinism with deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6111651000146112	albinisme-doofheid-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674481000146112	syndroom van albinisme met doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674491000146114	syndroom van albinisme met doofheid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3332023017	Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core