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722285005: 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
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

0 descendants.

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 Functional observable 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 Congenital hypopigmentation 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
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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