Link to this page
SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/230672006
http://purl.bioontology.org/ontology/SNOMEDCT/230672006
|
|---|---|
| Preferred Name | Congenital myasthenic syndrome |
| Synonyms |
Congenital myasthenic syndrome (disorder)
Congenital myasthenia syndrome
Congenital myasthenia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | Congenital myasthenic syndrome
|
|---|---|
| altLabel |
Congenital myasthenic syndrome (disorder)
Congenital myasthenia syndrome
Congenital myasthenia
|
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20190731
|
| cui | C0751882
|
| Has pathological process | |
| CTV3ID | X00Ce
|
| DEFINITION STATUS ID | 900000000000073002
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| Occurs in | |
| tui | T047
|
| Active | 1
|
| notation | 230672006
|
| INACTIVATION INDICATOR | 900000000000483008
|
| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPRULE~IFA 1366554003 | Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation |
6011000124106~MAPADVICE~IF CONGENITAL MYASTHENIC SYNDROME WITH GLYCOSYLATION DEFECT DUE TO ALG14 UDP-N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT GENE MUTATION CHOOSE G70.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
900000000000497000~MAPTARGET~X00Ce
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~G70.2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~MAPADVICE~ALWAYS G70.2
6011000124106~MAPRULE~IFA 230677000 | Congenital end-plate acetylcholinesterase deficiency |
447562003~CORRELATIONID~447561005
6011000124106~MAPADVICE~IF CONGENITAL END-PLATE ACETYLCHOLINESTERASE DEFICIENCY CHOOSE G70.00 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPCATEGORYID~447637006
447562003~MAPTARGET~G70.2
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~E74.89
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPTARGET~G70.00
900000000000490003~VALUEID~900000000000483008
6011000124106~MAPADVICE~ALWAYS G70.2
6011000124106~MAPADVICE~IF CONGENITAL MYASTHENIC SYNDROME WITH GLYCOSYLATION DEFECT DUE TO ALG14 UDP-N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT GENE MUTATION CHOOSE E74.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
6011000124106~MAPPRIORITY~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
See more
See less
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |