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\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)\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	kongenit lille statur	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	kongenit lille statur	false	Inferred relationship	Some	1
Microphthalmos	Finding site	Eye structure	false	Inferred relationship	Some	1
Microphthalmos	Associated morphology	kongenit lille statur	false	Inferred relationship	Some	2
Microphthalmos	Finding site	øje som helhed	false	Inferred relationship	Some	2
Microphthalmos	Occurrence	Congenital	true	Inferred relationship	Some	1
Microphthalmos	Associated morphology	kongenit lille statur	false	Inferred relationship	Some	1
Microphthalmos	Finding site	øje som helhed	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	Is a	True	Microphthalmos	Inferred relationship	Some
mikroftalmi associeret med andre anomalier i øje OG/ELLER adnexa	Is a	False	Microphthalmos	Inferred relationship	Some
Hypoplasia of eye (disorder)	Is a	False	Microphthalmos	Inferred relationship	Some
Simple microphthalmos	Is a	True	Microphthalmos	Inferred relationship	Some
mikroftalmi, uspecificeret	Is a	False	Microphthalmos	Inferred relationship	Some
uspecificeret mikroftalmi, ikke nærmere specificeret	Is a	False	Microphthalmos	Inferred relationship	Some
mikroftalmi med anden øjenanomali	Is a	False	Microphthalmos	Inferred relationship	Some
mikroftalmi, ikke nærmere specificeret	Is a	False	Microphthalmos	Inferred relationship	Some
Lenz microphthalmia syndrome (disorder)	Is a	True	Microphthalmos	Inferred relationship	Some
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	Some
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	Some
Oculocerebral dysplasia syndrome	Is a	False	Microphthalmos	Inferred relationship	Some
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	Some
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized 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 localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.	Is a	True	Microphthalmos	Inferred relationship	Some
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	Is a	True	Microphthalmos	Inferred relationship	Some
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	Is a	True	Microphthalmos	Inferred relationship	Some
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	Some
A rare X-linked, syndromic eye disorder characterized 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	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.	Is a	True	Microphthalmos	Inferred relationship	Some
A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21.	Is a	True	Microphthalmos	Inferred relationship	Some
A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.	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

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
2201061000005114	Mikroftalmi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)