loading...| Preferred Name |
Congenital fibrosis syndrome |
|
| Synonyms |
Congenital fibrosis syndrome (disorder) Congenital fibrosis of extraocular muscles |
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| Definitions |
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/400946004 |
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| Active |
1 |
|
| altLabel |
Congenital fibrosis syndrome (disorder) Congenital fibrosis of extraocular muscles |
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| CASE SIGNIFICANCE ID |
900000000000448009 |
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| CTV3ID |
XUZEC |
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| cui |
C1302995 |
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| definition |
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20220430 |
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| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/25238003 |
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| Has interpretation | ||
| Has pathological process | ||
| interprets | ||
| notation |
400946004 |
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| Occurs in | ||
| prefLabel |
Congenital fibrosis syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~IF CONGENITAL FIBROSIS OF INFERIOR RECTUS MUSCLE CHOOSE Q15.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~1 900000000000497000~MAPTARGET~XUZEC 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPADVICE~ALWAYS M62.50 447562003~MAPGROUP~1 6011000124106~MAPRULE~IFA 400947008 | Congenital fibrosis of inferior rectus muscle (disorder) | 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q15.8 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~ALWAYS H50.69 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPTARGET~H50.69 447562003~MAPADVICE~ALWAYS H49.8 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 400947008 | Congenital fibrosis of inferior rectus muscle | 6011000124106~MAPPRIORITY~1 447562003~MAPTARGET~M62.50 6011000124106~CORRELATIONID~447561005 447562003~MAPTARGET~H49.8 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 |
|
| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/54873004 http://purl.bioontology.org/ontology/SNOMEDCT/89886004 http://purl.bioontology.org/ontology/SNOMEDCT/410504008 http://purl.bioontology.org/ontology/SNOMEDCT/19373007 http://purl.bioontology.org/ontology/SNOMEDCT/95509009 http://purl.bioontology.org/ontology/SNOMEDCT/782964007 http://purl.bioontology.org/ontology/SNOMEDCT/298277008 http://purl.bioontology.org/ontology/SNOMEDCT/106150003 |