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

312977019 Agenesis of eye en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Agenesis of eye	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of eye	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of eye	Finding site	Orbital region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of eye	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of eye	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Agenesis of eye	Is a	Congenital absence	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Agenesis of eye	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Finding site	œil entier	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Agenesis of eye	Is a	Anophthalmos	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital aphakia (disorder)	Is a	False	Agenesis of eye	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cystic eyeball	Is a	False	Agenesis of eye	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital aniridia (disorder)	Is a	False	Agenesis of eye	Inferred relationship	Existential restriction modifier (core metadata concept)
Anophthalmos	Is a	False	Agenesis of eye	Inferred relationship	Existential restriction modifier (core metadata concept)
Monophthalmos (disorder)	Is a	False	Agenesis of eye	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Agenesis of eye	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)