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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Deformity (finding)\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\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)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\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)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\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)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\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)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\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)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\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)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability 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\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability 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 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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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\Blepharophimosis, intellectual disability syndrome (disorder)\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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability 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\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability 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\Lesion of eyelid\Narrowing of palpebral fissure (disorder)\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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)\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, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability 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, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \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)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of face (disorder)\Blepharophimosis, intellectual disability 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 structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability 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:

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

Expanded Value Set

This concept is not in any reference sets

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