40299004: Pigmentary degeneration (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Degenerative abnormality\Pigmentary degeneration

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

63699018 Pigmentary degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

63700017 Pigmental degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

776915014 Pigmentary degeneration (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pigmentary degeneration	Is a	dégénérescence	false	Inferred relationship	Some
Pigmentary degeneration	Is a	Degenerative abnormality	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pigmentary pallidal degeneration	Associated morphology	False	Pigmentary degeneration	Inferred relationship	Some	1
Secondary pigmentary retinal degeneration	Associated morphology	False	Pigmentary degeneration	Inferred relationship	Some	1
kératite pigmentaire	Associated morphology	False	Pigmentary degeneration	Inferred relationship	Some	2
Kearns-Sayre syndrome	Associated morphology	False	Pigmentary degeneration	Inferred relationship	Some	1
Secondary pigmentary retinal degeneration	Associated morphology	True	Pigmentary degeneration	Inferred relationship	Some	1
Pigmentary pallidal degeneration	Associated morphology	True	Pigmentary degeneration	Inferred relationship	Some	1
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Associated morphology	False	Pigmentary degeneration	Inferred relationship	Some	6
Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.	Associated morphology	False	Pigmentary degeneration	Inferred relationship	Some	3
Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.	Associated morphology	False	Pigmentary degeneration	Inferred relationship	Some	4
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	Associated morphology	False	Pigmentary degeneration	Inferred relationship	Some	2
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	Associated morphology	True	Pigmentary degeneration	Inferred relationship	Some	1
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Associated morphology	True	Pigmentary degeneration	Inferred relationship	Some	3
Classical pantothenate kinase associated neurodegeneration	Associated morphology	True	Pigmentary degeneration	Inferred relationship	Some	1
Atypical pantothenate kinase associated neurodegeneration (disorder)	Associated morphology	True	Pigmentary degeneration	Inferred relationship	Some	1

This concept is not in any reference sets