722285005: Albinism with deafness syndrome (disorder)

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
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\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 (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Neural hearing loss\Albinism with deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (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 (finding)\Decreased hearing\Albinism with deafness syndrome
\Functional finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Functional finding\Hearing finding\Hearing disorder (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 (disorder)\Hereditary disorder of nervous system (disorder)\Albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Albinism with deafness syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Albinism with deafness syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Albinism with deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\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 (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Albinism with deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Neural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of acoustic nerve\Neural hearing loss\Albinism with deafness syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Albinism with deafness syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Disorder of acoustic nerve\Neural 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 (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

5402876013 A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. 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

5402877016 A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. 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

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

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 Only initial character 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

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

5402876013 A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. 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

5402877016 A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. 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

3430761001000119 Albinismus - Schwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6006441000241114 syndrome d'albinisme et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6006441000241114 syndrome d'albinisme et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3430761001000119 Albinismus - Schwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (core metadata concept)
Albinism with deafness syndrome	Is a	Albinism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Albinism with deafness syndrome	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Albinism with deafness syndrome	Interprets	entité observable fonctionnelle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Albinism with deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Albinism with deafness syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Albinism with deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Albinism with deafness syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Albinism with deafness syndrome	Is a	Genetic disorder of skin pigmentation (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism with deafness syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism with deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism with deafness syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Albinism with deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Albinism with deafness syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Albinism with deafness syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Albinism with deafness syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Has interpretation	Impaired (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Albinism with deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Albinism with deafness syndrome	Is a	X-linked sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Is a	Neural hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Albinism with deafness syndrome	Finding site	Vestibulocochlear nerve structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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
5402876013	A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. 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
5402877016	A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. 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
3331448012	Albinism with deafness syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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
5402876013	A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. 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
5402877016	A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. 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
3430761001000119	Albinismus - Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6006441000241114	syndrome d'albinisme et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6006441000241114	syndrome d'albinisme et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430761001000119	Albinismus - Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module