699297004: Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)

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

\Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

\Finding of head and neck region\Head finding (finding)\...

\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 blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Lesion of face (finding)\Lesion of eyelid\Narrowing of palpebral fissure (finding)\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (finding)\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Eyelid finding\Lesion of eyelid\Narrowing of palpebral fissure (finding)\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

\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 blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

\Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (finding)\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Eye / vision finding\Eyelid finding\Lesion of eyelid\Narrowing of palpebral fissure (finding)\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\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 blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\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 blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\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 blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\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 blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Developmental hereditary disorder\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	false	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	Cardiovascular system hereditary disorder	false	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Occurrence	Congenital	false	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Tooth structure	false	Inferred relationship	Some	4
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	kongenital anomali	false	Inferred relationship	Some	6
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Heart structure	false	Inferred relationship	Some	6
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	Narrowed structure (morphologic abnormality)	false	Inferred relationship	Some	5
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Structure of palpebral fissure	false	Inferred relationship	Some	5
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	kongenital anomali	false	Inferred relationship	Some	7
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Eyelid structure	false	Inferred relationship	Some	7
Ohdo syndrome, Maat-Kievit-Brunner type	Occurrence	Congenital	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Eyelid structure	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Occurrence	Congenital	true	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Heart structure	false	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Heart structure	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Eyelid structure	true	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Occurrence	Congenital	true	Inferred relationship	Some	3
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	Narrowed structure (morphologic abnormality)	true	Inferred relationship	Some	3
Ohdo syndrome, Maat-Kievit-Brunner type	Finding site	Structure of palpebral fissure	true	Inferred relationship	Some	3
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Ohdo syndrome, Maat-Kievit-Brunner type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	Deformity	true	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	Blepharophimosis and mental retardation syndrome (disorder)	true	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
2983700013	Ohdo syndrome, Maat-Kievit-Brunner type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983702017	Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2983727012	X-linked Ohdo syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643148017	Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3643149013	Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3668001000052119	Ohdos syndrom, Maat-Kievit-Brunner-typ	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)