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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/7720002
http://purl.bioontology.org/ontology/SNOMEDCT/7720002
|
|---|---|
| Preferred Name | Metaphyseal chondrodysplasia, McKusick type |
| Synonyms |
Cartilage-hair hypoplasia syndrome
Metaphyseal chondrodysplasia, McKusick type (disorder)
Cartilage hair syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Cartilage-hair hypoplasia syndrome
Metaphyseal chondrodysplasia, McKusick type (disorder)
Cartilage hair syndrome
|
|---|---|
| prefLabel | Metaphyseal chondrodysplasia, McKusick type
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
|
| notation | 7720002
|
| Effective time | 20020131
|
| Active | 1
|
| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPRULE~IFA 304576008 | Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency (disorder) |
447562003~MAPTARGET~Q78.5
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~IF METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE WITH ASSOCIATED IMMUNODEFICIENCY CHOOSE Q78.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
447562003~MAPGROUP~1
900000000000497000~MAPTARGET~X78AZ
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q78.5
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q78.8
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPCATEGORYID~447639009
447562003~MAPADVICE~ALWAYS Q78.5
6011000124106~MAPPRIORITY~1
6011000124106~MAPRULE~IFA 304576008 | Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency |
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q78.5
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
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|
| DEFINITION STATUS ID | 900000000000074008
|
| tui |
T047
T019
|
| CTV3ID | X78AZ
|
| Occurs in | |
| cui | C0220748
|
| Has associated morphology |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |