loading...| Preferred Name |
Disorder of lysine and hydroxylysine metabolism |
|
| Synonyms |
Disorder of lysine and hydroxylysine metabolism (disorder) Lysine and hydroxylysine metabolism disorder |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/237929000 |
|
| Active |
1 |
|
| altLabel |
Disorder of lysine and hydroxylysine metabolism (disorder) Lysine and hydroxylysine metabolism disorder |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
X40SO |
|
| cui |
C0268552 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| notation |
237929000 |
|
| prefLabel |
Disorder of lysine and hydroxylysine metabolism |
|
| Subset member |
6011000124106~MAPADVICE~IF SEIZURES AND INTELLECTUAL DISABILITY DUE TO HYDROXYLYSINURIA CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~R56.9 447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~P90 447562003~MAPTARGET~E72.3 6011000124106~MAPRULE~IFA 723994004 | Seizures and intellectual disability due to hydroxylysinuria | AND IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPRULE~IFA 723994004 | Seizures and intellectual disability due to hydroxylysinuria | 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPRULE~IFA 342553006 | Periodic hyperlysinemia with hyperammonemia | 6011000124106~MAPADVICE~IF SEIZURES AND INTELLECTUAL DISABILITY DUE TO HYDROXYLYSINURIA CHOOSE E72.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 6011000124106~MAPRULE~IFA 342553006 | Periodic hyperlysinemia with hyperammonemia (disorder) | 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF SEIZURES AND INTELLECTUAL DISABILITY DUE TO HYDROXYLYSINURIA AND IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P90 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPADVICE~ALWAYS E72.3 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~ALWAYS E72.3 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~IF SEIZURES AND INTELLECTUAL DISABILITY DUE TO HYDROXYLYSINURIA CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF PERIODIC HYPERLYSINEMIA WITH HYPERAMMONEMIA CHOOSE E72.20 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF PERIODIC HYPERLYSINEMIA WITH HYPERAMMONEMIA CHOOSE E72.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF SEIZURES AND INTELLECTUAL DISABILITY DUE TO HYDROXYLYSINURIA CHOOSE R56.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~E72.20 6011000124106~MAPTARGET~E72.3 6011000124106~MAPRULE~TRUE 900000000000497000~MAPTARGET~X40SO 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |