loading...| Preferred Name |
Congenital blepharophimosis |
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| Synonyms |
Congenital blepharophimosis (disorder) |
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| Definitions |
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/93040009 |
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| Active |
1 |
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| altLabel |
Congenital blepharophimosis (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000448009 |
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| CTV3ID |
P3614 |
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| cui |
C0344502 |
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| definition |
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi |
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| DEFINITION STATUS ID |
900000000000073002 |
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| Effective time |
20050731 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
93040009 |
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| Occurs in | ||
| prefLabel |
Congenital blepharophimosis |
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| Subset member |
6011000124106~MAPRULE~IFA 717914000 | Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome | 6011000124106~MAPADVICE~IF ATRIOVENTRICULAR SEPTAL DEFECT, BLEPHAROPHIMOSIS, RADIAL AND ANAL DEFECT SYNDROME CHOOSE Q21.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, PTOSIS, ESOTROPIA, SYNDACTYLY, SHORT STATURE SYNDROME CHOOSE Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF INTELLECTUAL DISABILITY, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE K00.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 412787009 | Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 788584007 | Blepharophimosis, intellectual disability syndrome | 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~IF INTELLECTUAL DISABILITY, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE Q24.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q70.9 6011000124106~MAPRULE~IFA 412787009 | Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, PTOSIS, ESOTROPIA, SYNDACTYLY, SHORT STATURE SYNDROME CHOOSE H50.00 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 699298009 | Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) | 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPPRIORITY~7 6011000124106~MAPPRIORITY~4 6011000124106~MAPRULE~IFA 715391004 | Blepharophimosis epicanthus inversus ptosis syndrome | 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~IF ATRIOVENTRICULAR SEPTAL DEFECT, BLEPHAROPHIMOSIS, RADIAL AND ANAL DEFECT SYNDROME CHOOSE Q10.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~K00.4 6011000124106~MAPTARGET~ 6011000124106~MAPADVICE~IF MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE K00.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, INTELLECTUAL DISABILITY SYNDROME, VERLOES TYPE CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS EPICANTHUS INVERSUS PTOSIS SYNDROME CHOOSE Q10.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, PTOSIS, ESOTROPIA, SYNDACTYLY, SHORT STATURE SYNDROME CHOOSE Q70.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 699297004 | Ohdo syndrome, Maat-Kievit-Brunner type | 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~IF OHDO SYNDROME, MAAT-KIEVIT-BRUNNER TYPE CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q87.1 6011000124106~MAPRULE~IFA 699297004 | Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type (disorder) | 6011000124106~MAPADVICE~ALWAYS Q10.3 6011000124106~MAPPRIORITY~10 6011000124106~MAPRULE~IFA 763066009 | Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, INTELLECTUAL DISABILITY SYNDROME CHOOSE Q10.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, PTOSIS, ESOTROPIA, SYNDACTYLY, SHORT STATURE SYNDROME CHOOSE Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~8 447562003~MAPADVICE~ALWAYS Q10.3 6011000124106~MAPTARGET~Q87.19 6011000124106~MAPTARGET~Q21.20 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 6011000124106~MAPTARGET~Q87.89 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS EPICANTHUS INVERSUS PTOSIS SYNDROME PLUS CHOOSE Q10.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q10.0 6011000124106~MAPRULE~IFA 715391004 | Blepharophimosis epicanthus inversus ptosis syndrome (disorder) | 6011000124106~MAPADVICE~IF INTELLECTUAL DISABILITY, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS EPICANTHUS INVERSUS PTOSIS SYNDROME CHOOSE Q10.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q10.3 6011000124106~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~Q21.2 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 717914000 | Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) | 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, PTOSIS, ESOTROPIA, SYNDACTYLY, SHORT STATURE SYNDROME CHOOSE Q10.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, INTELLECTUAL DISABILITY SYNDROME, VERLOES TYPE CHOOSE Q10.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 699298009 | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, INTELLECTUAL DISABILITY SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 788584007 | Blepharophimosis and mental retardation syndrome | 447562003~MAPPRIORITY~1 6011000124106~MAPRULE~IFA 778009001 | Blepharophimosis, intellectual disability syndrome, Verloes type | 447562003~MAPCATEGORYID~447637006 6011000124106~MAPGROUP~5 6011000124106~MAPRULE~IFA 412787009 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPTARGET~Q43.9 6011000124106~MAPGROUP~4 6011000124106~MAPPRIORITY~9 6011000124106~MAPTARGET~Q74.0 6011000124106~MAPCATEGORYID~447639009 447562003~MAPTARGET~Q10.3 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, SAY-BARBER-BIESECKER-YOUNG-SIMPSON TYPE CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ATRIOVENTRICULAR SEPTAL DEFECT, BLEPHAROPHIMOSIS, RADIAL AND ANAL DEFECT SYNDROME CHOOSE Q21.20 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ATRIOVENTRICULAR SEPTAL DEFECT, BLEPHAROPHIMOSIS, RADIAL AND ANAL DEFECT SYNDROME CHOOSE Q43.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF INTELLECTUAL DISABILITY, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE Q10.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS EPICANTHUS INVERSUS PTOSIS SYNDROME PLUS CHOOSE Q10.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~H50.00 6011000124106~MAPADVICE~IF MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE Q10.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~1 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 900000000000497000~MAPTARGET~P3614 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, PTOSIS, ESOTROPIA, SYNDACTYLY, SHORT STATURE SYNDROME CHOOSE Q10.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF OHDO SYNDROME, SAY-BARBER-BIESECKER-YOUNG-SIMPSON VARIANT CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~TRUE 6011000124106~MAPADVICE~IF INTELLECTUAL DISABILITY, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE Q10.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 890180006 | Blepharophimosis epicanthus inversus ptosis syndrome plus | 6011000124106~MAPADVICE~IF MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE Q10.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~3 6011000124106~MAPADVICE~IF MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE Q24.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS, INTELLECTUAL DISABILITY SYNDROME, VERLOES TYPE CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~3 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF ATRIOVENTRICULAR SEPTAL DEFECT, BLEPHAROPHIMOSIS, RADIAL AND ANAL DEFECT SYNDROME CHOOSE Q74.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS AND HYPOPLASTIC TEETH CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q24.9 6011000124106~MAPADVICE~IF BLEPHAROPHIMOSIS AND MENTAL RETARDATION SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT |
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| tui |
T019 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |