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65075004: Irido-corneal dysgenesis (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Irido-cornea-dysgenese	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Irido-cornea-dysgenese	Is a	Disorder of anterior segment of eye	false	Inferred relationship	Some
Irido-cornea-dysgenese	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Irido-cornea-dysgenese	Finding site	Anterior eyeball segment structure (body structure)	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Occurrence	Congenital	false	Inferred relationship	Some
Irido-cornea-dysgenese	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Irido-cornea-dysgenese	Finding site	Eye structure	false	Inferred relationship	Some	2
Irido-cornea-dysgenese	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Associated morphology	kongenit udviklingsanomali	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Is a	Congenital anomaly of anterior segment of eye (disorder)	false	Inferred relationship	Some
Irido-cornea-dysgenese	Finding site	Anterior eyeball segment structure (body structure)	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Associated morphology	kongenit udviklingsanomali	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Occurrence	Congenital	false	Inferred relationship	Some	2
Irido-cornea-dysgenese	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Irido-cornea-dysgenese	Finding site	Anterior eyeball segment structure (body structure)	false	Inferred relationship	Some	2
Irido-cornea-dysgenese	Occurrence	Congenital	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Irido-cornea-dysgenese	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Axenfeld-Rieger syndrome (disorder)	Is a	False	Irido-cornea-dysgenese	Inferred relationship	Some
A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.	Is a	False	Irido-cornea-dysgenese	Inferred relationship	Some
A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.	Is a	False	Irido-cornea-dysgenese	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
108148017	Irido-corneal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
108149013	Anterior segment dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
804538012	Irido-corneal dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1949171000005113	Irido-cornea-dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)