717222003: Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

\Finding of head and neck region\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\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Eyelid finding\Lid margin finding\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Lid margin finding\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\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\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\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\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Lid adhesions\Ankyloblepharon\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital ankyloblepharon\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308715018 Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308716017 Microphthalmia with ankyloblepharon and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308717014 Syndromic microphthalmia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308718016 This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localized to the Xq27-q28 region. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3308764014 This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localised to the Xq27-q28 region. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3873091000052118 syndrom med mikroftalmi, ankyloblefaron och intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	Microphthalmos	true	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	Congenital ankyloblepharon	true	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Finding site	Structure of free margin of eyelid	true	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Finding site	Entire eye	false	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Associated morphology	medfödd adherens	false	Inferred relationship	Some	3
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Finding site	Structure of free margin of eyelid	false	Inferred relationship	Some	3
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Finding site	Entire eye	true	Inferred relationship	Some	1
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Associated morphology	Adhesion	true	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3308715018	Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308716017	Microphthalmia with ankyloblepharon and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308717014	Syndromic microphthalmia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308718016	This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localized to the Xq27-q28 region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308764014	This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localised to the Xq27-q28 region.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3873091000052118	syndrom med mikroftalmi, ankyloblefaron och intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)