788584007: Blepharophimosis and mental retardation syndrome (disorder)

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

\Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)

\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)
\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)
\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)
\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)
\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)
\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)
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\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)
\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)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\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)

\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)
\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)
\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)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\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)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\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)
\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)

\Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (finding)\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)
\Eye / vision finding\Eyelid finding\Lesion of eyelid\Narrowing of palpebral fissure (finding)\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation 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 blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\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)
\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)

\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\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)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\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)
\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)
\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)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\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)
\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)
\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)
\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)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis and mental retardation syndrome (disorder)
\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)
\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)
\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)
\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)
\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)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharophimosis and mental retardation syndrome (disorder)	Is a	Congenital blepharophimosis	true	Inferred relationship	Some
Blepharophimosis and mental retardation syndrome (disorder)	Is a	Congenital deformity of face (disorder)	true	Inferred relationship	Some
Blepharophimosis and mental retardation syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Blepharophimosis and mental retardation syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Blepharophimosis and mental retardation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharophimosis and mental retardation syndrome (disorder)	Finding site	Eyelid structure	true	Inferred relationship	Some	2
Blepharophimosis and mental retardation syndrome (disorder)	Is a	Deformity of eyelid (disorder)	true	Inferred relationship	Some
Blepharophimosis and mental retardation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Blepharophimosis and mental retardation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Blepharophimosis and mental retardation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Blepharophimosis and mental retardation syndrome (disorder)	Associated morphology	Deformity	true	Inferred relationship	Some	2
Blepharophimosis and mental retardation syndrome (disorder)	Associated morphology	Narrowed structure (morphologic abnormality)	true	Inferred relationship	Some	1
Blepharophimosis and mental retardation syndrome (disorder)	Finding site	Structure of palpebral fissure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder)	Is a	True	Blepharophimosis and mental retardation syndrome (disorder)	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Is a	True	Blepharophimosis and mental retardation syndrome (disorder)	Inferred relationship	Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	Is a	True	Blepharophimosis and mental retardation syndrome (disorder)	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)	Is a	True	Blepharophimosis and mental retardation syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3782738019	BMRS - blepharophimosis, mental retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3782739010	Blepharophimosis and mental retardation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3782740012	Blepharophimosis and mental retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4471651000052110	syndrom med blefarofimos 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)