1300198006: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\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\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\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\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\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\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \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\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Genetic disease\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \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 structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \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\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \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\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\SMARCA2-related blepharophimosis, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\SMARCA2-related blepharophimosis, intellectual disability syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5298546017	SMARCA2-related blepharophimosis, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298547014	SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2) related blepharophimosis, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298548016	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298549012	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298550012	A rare genetic syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298551011	A rare genetic syndromic intellectual disability disorder characterised by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioural problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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