699297004: blepharophimosis-mentale retardatie syndroom type 4 (aandoening)

• 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\Finding of eye 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\Finding of eye 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\Finding of eye 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\Finding of eye 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 eye region\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 eye region\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 eye region\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 eye region\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\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\Finding of eye 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
• \Eye / vision finding\Finding of eye 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
• \Eye / vision finding\Finding of eye 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
• \Eye / vision finding\Finding of eye 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
• \Eye / vision finding\Finding of eye region\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\Finding of eye region\Eyelid finding\Disorder of eyelid\Deformity of eyelid (disorder)\Blepharophimosis, intellectual disability syndrome (disorder)\Ohdo syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Finding of eye region\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\Finding of eye region\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
2983555013	Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type (disorder)	en	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
2211241000146113	blepharophimosis-mentale retardatie syndroom type 4 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2211251000146111	blepharophimosis-mentale retardatie syndroom type 4	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2211261000146114	Maat-Kievit-Brunner syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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