773575001: Ocular albinism with congenital sensorineural deafness (disorder)

Status: retired, Primitive. 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	Active	Case insensitive	SNOMED CT core
3724257018	Ocular albinism with congenital sensorineural deafness (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3724258011	Waardenburg syndrome type 2 with ocular albinism	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Concept inactivation indicator reference set

REPLACED BY association reference set

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