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61142002: Microphthalmos (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microphthalmos	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Microphthalmos	Finding site	Eye structure	false	Inferred relationship	Some	1
Microphthalmos	Occurrence	Congenital	false	Inferred relationship	Some
Microphthalmos	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Microphthalmos	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microphthalmos	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Microphthalmos	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Microphthalmos	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microphthalmos	Finding site	Eye structure	false	Inferred relationship	Some	1
Microphthalmos	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Microphthalmos	Finding site	Entire eye	false	Inferred relationship	Some	2
Microphthalmos	Occurrence	Congenital	true	Inferred relationship	Some	1
Microphthalmos	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microphthalmos	Finding site	Entire eye	false	Inferred relationship	Some	1
Microphthalmos	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microphthalmos	Finding site	Entire eye proper	true	Inferred relationship	Some	1
Microphthalmos	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cross syndrome	Is a	False	Microphthalmos	Inferred relationship	Some
Dysplasia of eye (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmos associated with other anomalies of eye AND/OR adnexa	Is a	False	Microphthalmos	Inferred relationship	Some
Hypoplasia of eye	Is a	False	Microphthalmos	Inferred relationship	Some
Simple microphthalmos	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmos, unspecified	Is a	False	Microphthalmos	Inferred relationship	Some
Unspecified microphthalmos NOS	Is a	False	Microphthalmos	Inferred relationship	Some
Microphthalmos with other eye anomaly	Is a	False	Microphthalmos	Inferred relationship	Some
Microphthalmos NOS	Is a	False	Microphthalmos	Inferred relationship	Some
Lenz microphthalmia syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Oculocerebral dysplasia syndrome	Is a	False	Microphthalmos	Inferred relationship	Some
Nanophthalmia (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Arrhinia with choanal atresia and microphthalmia syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmia with linear skin defect syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Macrosomia, microphthalmia, cleft palate syndrome	Is a	True	Microphthalmos	Inferred relationship	Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmos of right eye	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmos of left eye	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmos due to branchio-oculo-facial syndrome	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmos due to Fryns syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Microphthalmos due to Delleman syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Is a	True	Microphthalmos	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
101601011	Microphthalmos	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101604015	Microphthalmia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
800172016	Microphthalmos (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232176011	Small eyeball	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232177019	Globe of eye small	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core