403805009: Albinism-deafness syndrome of Tietz (disorder)

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

\Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)

\Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Profound hearing loss\Profound sensorineural hearing loss\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Profound sensorineural hearing loss\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Ear finding (finding)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Ear finding (finding)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Profound hearing loss\Profound sensorineural hearing loss\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Profound sensorineural hearing loss\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)

\Functional finding\Hearing finding\Hearing disorder (disorder)\...

\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)

\Hearing loss\Profound hearing loss\Profound sensorineural hearing loss\Albinism-deafness syndrome of Tietz (disorder)
\Hearing loss\Sensorineural hearing loss\Profound sensorineural hearing loss\Albinism-deafness syndrome of Tietz (disorder)
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)
\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of pigmentation (disorder)\Albinism\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Albinism\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Albinism\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Profound hearing loss\Profound sensorineural hearing loss\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Profound sensorineural hearing loss\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Sensorineural hearing loss of bilateral ears\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Albinism\Albinism-deafness syndrome of Tietz (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Albinism\Albinism-deafness syndrome of Tietz (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Albinism-deafness syndrome of Tietz (disorder)	Is a	Albinism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	Congenital deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Finding site	Eye region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Albinism-deafness syndrome of Tietz (disorder)	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism-deafness syndrome of Tietz (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism-deafness syndrome of Tietz (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism-deafness syndrome of Tietz (disorder)	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism-deafness syndrome of Tietz (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Is a	Sensorineural hearing loss of bilateral ears	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Is a	Profound sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism-deafness syndrome of Tietz (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Albinism-deafness syndrome of Tietz (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Albinism-deafness syndrome of Tietz (disorder)	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Albinism-deafness syndrome of Tietz (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Albinism-deafness syndrome of Tietz (disorder)	Finding site	Right ear structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Albinism-deafness syndrome of Tietz (disorder)	Finding site	Left ear structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5

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
1771731015	Albinism-deafness syndrome of Tietz (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782814010	Albinism-deafness syndrome of Tietz	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1771731015	Albinism-deafness syndrome of Tietz (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782814010	Albinism-deafness syndrome of Tietz	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3428521001000115	Tietz-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264741000241115	syndrome d'hypopigmentation et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264741000241115	syndrome d'hypopigmentation et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428521001000115	Tietz-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module