773575001: Ocular albinism with congenital sensorineural deafness (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3724256010 Ocular albinism with congenital sensorineural deafness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724257018 Ocular albinism with congenital sensorineural deafness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724258011 Waardenburg syndrome type 2 with ocular albinism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724843013 A rare genetic oculocutaneous disorder characterized by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3724844019 A rare genetic oculocutaneous disorder characterised by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalised hypopigmentation of the skin. White forelock, premature greying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
905201000172117 albinisme oculaire avec surdité neurosensorielle congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
976711000172110 syndrome de Waardenburg type 2 avec albinisme oculaire fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
1016581000172110 Waardenburg-syndroom type 2 met oculair albinisme nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
1020851000172114 oculair albinisme met congenitale sensorineurale doofheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
albinisme oculaire avec surdité neurosensorielle congénitale	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	1
albinisme oculaire avec surdité neurosensorielle congénitale	Occurrence	Congenital	false	Inferred relationship	Some	3
albinisme oculaire avec surdité neurosensorielle congénitale	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
albinisme oculaire avec surdité neurosensorielle congénitale	Is a	Ocular albinism	false	Inferred relationship	Some
albinisme oculaire avec surdité neurosensorielle congénitale	Occurrence	Congenital	false	Inferred relationship	Some	2
albinisme oculaire avec surdité neurosensorielle congénitale	Finding site	Skin structure	false	Inferred relationship	Some	2
albinisme oculaire avec surdité neurosensorielle congénitale	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
albinisme oculaire avec surdité neurosensorielle congénitale	Occurrence	Congenital	false	Inferred relationship	Some	1
albinisme oculaire avec surdité neurosensorielle congénitale	Is a	Genetic disorder of skin pigmentation (disorder)	false	Inferred relationship	Some
albinisme oculaire avec surdité neurosensorielle congénitale	Is a	Congenital sensorineural hearing loss (disorder)	false	Inferred relationship	Some
albinisme oculaire avec surdité neurosensorielle congénitale	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
albinisme oculaire avec surdité neurosensorielle congénitale	Interprets	Hearing	false	Inferred relationship	Some	4
albinisme oculaire avec surdité neurosensorielle congénitale	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Some	3
albinisme oculaire avec surdité neurosensorielle congénitale	Finding site	Eye structure	false	Inferred relationship	Some	3
albinisme oculaire avec surdité neurosensorielle congénitale	Is a	Congenital oculocutaneous hypopigmentation	false	Inferred relationship	Some
albinisme oculaire avec surdité neurosensorielle congénitale	Associated morphology	Hypopigmentation	false	Inferred relationship	Some	2
albinisme oculaire avec surdité neurosensorielle congénitale	Is a	Waardenburg syndrome type 2 (disorder)	false	Inferred relationship	Some
albinisme oculaire avec surdité neurosensorielle congénitale	Finding site	Ear structure	false	Inferred relationship	Some	1
albinisme oculaire avec surdité neurosensorielle congénitale	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
albinisme oculaire avec surdité neurosensorielle congénitale	Is a	Decreased hearing (finding)	false	Inferred relationship	Some
albinisme oculaire avec surdité neurosensorielle congénitale	Has interpretation	Decreased	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3724256010	Ocular albinism with congenital sensorineural deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724257018	Ocular albinism with congenital sensorineural deafness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724258011	Waardenburg syndrome type 2 with ocular albinism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724843013	A rare genetic oculocutaneous disorder characterized by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3724844019	A rare genetic oculocutaneous disorder characterised by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalised hypopigmentation of the skin. White forelock, premature greying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
905201000172117	albinisme oculaire avec surdité neurosensorielle congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
976711000172110	syndrome de Waardenburg type 2 avec albinisme oculaire	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1016581000172110	Waardenburg-syndroom type 2 met oculair albinisme	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
1020851000172114	oculair albinisme met congenitale sensorineurale doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)