204099004: Agenesis of eye (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

312977019 Agenesis of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

589280011 Agenesis of eye (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1694071000005116 agenesi af øje da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
agenesi af øje	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
agenesi af øje	Occurrence	Congenital	false	Inferred relationship	Some
agenesi af øje	Finding site	Orbital region structure	false	Inferred relationship	Some	1
agenesi af øje	Finding site	Eye structure	false	Inferred relationship	Some	1
agenesi af øje	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
agenesi af øje	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
agenesi af øje	Is a	Congenital malformation	false	Inferred relationship	Some
agenesi af øje	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
agenesi af øje	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
agenesi af øje	Finding site	Eye structure	false	Inferred relationship	Some	1
agenesi af øje	Occurrence	Congenital	false	Inferred relationship	Some	1
agenesi af øje	Finding site	Eye structure	false	Inferred relationship	Some	2
agenesi af øje	Is a	Congenital absence	false	Inferred relationship	Some
agenesi af øje	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
agenesi af øje	Finding site	øje som helhed	false	Inferred relationship	Some	1
agenesi af øje	Is a	Anophthalmos	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital aphakia	Is a	False	agenesi af øje	Inferred relationship	Some
Congenital cystic eyeball	Is a	False	agenesi af øje	Inferred relationship	Some
Congenital aniridia (disorder)	Is a	False	agenesi af øje	Inferred relationship	Some
Anophthalmos	Is a	False	agenesi af øje	Inferred relationship	Some
Monophthalmos	Is a	False	agenesi af øje	Inferred relationship	Some
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.	Is a	False	agenesi af øje	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)