loading...| Preferred Name |
Achondroplasia |
|
| Synonyms |
Congenital osteosclerosis Achondroplastic dwarfism |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 |
|
| Active |
1 |
|
| altLabel |
Congenital osteosclerosis Achondroplastic dwarf Achondroplasia (disorder) Osteosclerosis congenita Chondrodystrophia fetalis Achondroplastic dwarfism |
|
| Associated finding of |
http://purl.bioontology.org/ontology/SNOMEDCT/64121000119107 |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
|
| CTV3ID |
XE1M7 |
|
| cui |
C0001080 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| interprets | ||
| notation |
86268005 |
|
| Occurs in | ||
| prefLabel |
Achondroplasia |
|
| Subset member |
6011000124106~MAPRULE~IFA 789777007 | Short-limb skeletal dysplasia with severe combined immunodeficiency | 447562003~MAPTARGET~F81.9 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 447562003~MAPTARGET~Q77.4 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPGROUP~2 447562003~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~L83 6011000124106~MAPRULE~IFA 874931001 | Severe achondroplasia, developmental delay, acanthosis nigricans syndrome | 6011000124106~MAPADVICE~IF SEVERE ACHONDROPLASIA, DEVELOPMENTAL DELAY, ACANTHOSIS NIGRICANS SYNDROME CHOOSE Q82.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPTARGET~Q82.8 447562003~CORRELATIONID~447561005 447562003~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPTARGET~Q82.8 447562003~MAPTARGET~ 6011000124106~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) | 447562003~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) | 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF SEVERE ACHONDROPLASIA, DEVELOPMENTAL DELAY, ACANTHOSIS NIGRICANS SYNDROME CHOOSE F89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447639009 447562003~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE F81.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE L83 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPCATEGORYID~447639009 447562003~MAPADVICE~ALWAYS Q77.4 6011000124106~MAPPRIORITY~1 6011000124106~MAPTARGET~F89 6011000124106~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE R62.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~R62.50 6011000124106~MAPADVICE~IF SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY CHOOSE D81.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~ALWAYS Q77.4 900000000000497000~MAPTARGET~XE1M7 447562003~MAPPRIORITY~2 6011000124106~MAPRULE~TRUE 447562003~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE Q82.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q77.4 447562003~MAPGROUP~3 6011000124106~MAPGROUP~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans | 6011000124106~MAPADVICE~IF SEVERE ACHONDROPLASIA, DEVELOPMENTAL DELAY, ACANTHOSIS NIGRICANS SYNDROME CHOOSE Q77.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPCATEGORYID~447638001 6011000124106~MAPTARGET~D81.9 |
|
| tui |
T019 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/2391001 http://purl.bioontology.org/ontology/SNOMEDCT/205465004 |