61142002: Microphthalmos (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\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 (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\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\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\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 of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos
\Disease\Developmental disorder (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	Existential restriction modifier (core metadata concept)
Microphthalmos	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Is a	Ear, face and neck congenital anomalies (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microphthalmos	Finding site	œil entier	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microphthalmos	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Finding site	œil entier	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Finding site	Entire eye proper	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cross syndrome	Is a	False	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia of eye	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Mikrophthalmus in Verbindung mit anderen Anomalien des Auges UND/ODER der Augenanhangsgebilde	Is a	False	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypoplasia of eye	Is a	False	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Simple microphthalmos	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos, unspecified	Is a	False	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Unspecified microphthalmos NOS	Is a	False	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos with other eye anomaly	Is a	False	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos NOS	Is a	False	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Lenz microphthalmia syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculocerebral dysplasia syndrome	Is a	False	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmia with brain atrophy syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Macrosomia, microphthalmia, cleft palate syndrome	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos of right eye	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos of left eye	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos due to branchio-oculo-facial syndrome	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos due to Fryns syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Microphthalmos due to Delleman syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)
Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
101601011	Microphthalmos	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
101601011	Microphthalmos	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101603014	Simple microphthalmos	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
101604015	Microphthalmia	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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
1232178012	Nanophthalmos	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
944541000195119	microftalmia	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
391221000274110	Mikrophthalmus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
645991000274119	Mikrophthalmie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4590631000241114	microphtalmie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4590631000241114	microphtalmie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
944541000195119	microftalmia	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
391221000274110	Mikrophthalmus	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
645991000274119	Mikrophthalmie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module