788584007: Blepharophimosis, intellectual disability syndrome (disorder)

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

\Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)

\Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability 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, 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\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, 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\Deformity of eyelid (disorder)\Blepharophimosis, 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\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability 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, 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\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, 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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, 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 blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

5066752017 Blepharophimosis, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5066753010 Blepharophimosis, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

10049961000172119 syndrome de blépharophimosis et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10049971000172111 BMRS - blepharophimosis and mental retardation syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4335381000172114 BMRS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4335391000172112 blefarofimose-mentaleretardatiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4335401000172114 syndroom van blefarofimose en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4335411000172112 syndroom van blefarofimose en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4335421000172119 syndroom van blefarostenose en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Congenital blepharophimosis	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Congenital deformity of face (disorder)	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Finding site	Eyelid structure	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome (disorder)	Is a	Deformity of eyelid (disorder)	true	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Associated morphology	Deformity	true	Inferred relationship	Some	2
Blepharophimosis, intellectual disability syndrome (disorder)	Associated morphology	Narrowed structure (morphologic abnormality)	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Finding site	Structure of palpebral fissure	true	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Blepharophimosis, intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Blepharophimosis, intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Blepharophimosis, intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

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

This concept is not in any reference sets