716172002: Oculocerebral dysplasia syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3304963016 Oculocerebral dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304964010 Oculocerebral dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304965011 Behrens Baumann Vogel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304966012 Microphthalmia and optic nerve aplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304967015 Oculocerebral dysplasia combines bilateral microphthalmia (or the association of microphthalmia and cryptophthalmus) and unilateral optic nerve aplasia. Two cases have been reported, a girl and her brother. A Dandy-Walker cyst was also present in one case. Transmission appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocerebral dysplasia syndrome	Is a	Microphthalmos	false	Inferred relationship	Some
Oculocerebral dysplasia syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Oculocerebral dysplasia syndrome	Is a	Congenital anomaly of optic nerve	false	Inferred relationship	Some
Oculocerebral dysplasia syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Oculocerebral dysplasia syndrome	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Oculocerebral dysplasia syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Oculocerebral dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Oculocerebral dysplasia syndrome	Finding site	Entire eye	false	Inferred relationship	Some	2
Oculocerebral dysplasia syndrome	Associated morphology	Aplasia	false	Inferred relationship	Some	3
Oculocerebral dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Oculocerebral dysplasia syndrome	Finding site	Optic nerve structure	false	Inferred relationship	Some	3
Oculocerebral dysplasia syndrome	Is a	Aplasia of optic nerve (disorder)	false	Inferred relationship	Some
Oculocerebral dysplasia syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Oculocerebral dysplasia syndrome	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Oculocerebral dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Oculocerebral dysplasia syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Oculocerebral dysplasia syndrome	Associated morphology	Aplasia	false	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)