722285005: Albinism with deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\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\Neurological disorder\Neuropathy\Peripheral neuropathy\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Albinism with deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\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 neuropathy\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3331449016 Albinism with deafness syndrome en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331448012	Albinism with deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331449016	Albinism with deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core