722285005: Albinism with deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\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

\Finding of head and neck region\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome

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

\Functional finding\Decline in functional status\Decreased hearing\Albinism with deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Albinism with deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Albinism with deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Neural hearing loss\Albinism with deafness syndrome
\Functional finding\Hearing finding\Decreased hearing\Albinism with deafness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Albinism with deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\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
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Cranial nerve disorder\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of soft tissue\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3331449016 Albinism with deafness syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Albinism with deafness syndrome	Is a	Congenital deficiency of pigment of skin	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Albinism	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	2
Albinism with deafness syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	3
Albinism with deafness syndrome	Interprets	Functional observable	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Albinism with deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Albinism with deafness syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	6
Albinism with deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	6
Albinism with deafness syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	7
Albinism with deafness syndrome	Is a	Genetic disorder of skin pigmentation	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Albinism with deafness syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
Albinism with deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Albinism with deafness syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	1
Albinism with deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Albinism with deafness syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	4
Albinism with deafness syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	4
Albinism with deafness syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Has interpretation	Impaired	false	Inferred relationship	Existential restriction modifier	3
Albinism with deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Albinism with deafness syndrome	Is a	X-linked sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Is a	Neural hearing loss	true	Inferred relationship	Existential restriction modifier
Albinism with deafness syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Albinism with deafness syndrome	Finding site	Vestibulocochlear nerve structure	true	Inferred relationship	Existential restriction modifier	1

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
3331448012	Albinism with deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3331449016	Albinism with deafness syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module