loading...| Preferred Name |
Dysplasia with defective mineralization |
|
| Synonyms |
Dysplasia with defective mineralization (disorder) Dysplasia with defective mineralisation |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/254117007 |
|
| Active |
1 |
|
| altLabel |
Dysplasia with defective mineralization (disorder) Dysplasia with defective mineralisation |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
X78BI |
|
| cui |
C0432256 |
|
| DEFINITION STATUS ID |
900000000000073002 |
|
| Effective time |
20200131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
254117007 |
|
| Occurs in | ||
| prefLabel |
Dysplasia with defective mineralization |
|
| Subset member |
6011000124106~MAPADVICE~IF DOMINANT HYPOPHOSPHATEMIA WITH NEPHROLITHIASIS AND/OR OSTEOPOROSIS CHOOSE E83.31 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF OSSIFICATION ANOMALY WITH PSYCHOMOTOR DEVELOPMENTAL DELAY SYNDROME CHOOSE F88 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~F88 6011000124106~MAPTARGET~Q15.9 447562003~MAPRULE~TRUE 6011000124106~MAPPRIORITY~7 6011000124106~MAPPRIORITY~4 6011000124106~MAPRULE~IFA 722107005 | Ossification anomaly with psychomotor developmental delay syndrome (disorder) | 6011000124106~MAPRULE~IFA 1255268002 | Oculocerebrodental syndrome | 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~Q87.0 6011000124106~MAPADVICE~IF AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS CHOOSE E83.31 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~IF HYPOPHOSPHATEMIC RICKETS WITH NEPHROTIC-GLYCOSURIC DWARFISM CHOOSE E72.09 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF OCULOCEREBRODENTAL SYNDROME CHOOSE Q04.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 82236004 | Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) | 6011000124106~MAPPRIORITY~8 6011000124106~MAPADVICE~IF OCULOCEREBRODENTAL SYNDROME CHOOSE Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~M26.9 6011000124106~MAPRULE~IFA 237888005 | Hypophosphatemic rickets with nephrotic-glycosuric dwarfism | 447562003~MAPGROUP~1 6011000124106~MAPADVICE~ALWAYS Q78.8 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~N20.0 900000000000497000~MAPTARGET~X78BI 6011000124106~MAPTARGET~E83.32 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 237888005 | Hypophosphatemic rickets with nephrotic-glycosuric dwarfism (disorder) | 6011000124106~MAPRULE~IFA 82236004 | Familial x-linked hypophosphatemic vitamin D refractory rickets | 6011000124106~MAPRULE~IFA 237890006 | Autosomal dominant hypophosphatemic bone disease (disorder) | 6011000124106~MAPRULE~IFA 783620009 | Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis | 6011000124106~MAPADVICE~IF OCULOCEREBRODENTAL SYNDROME CHOOSE M26.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q78.8 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~IF OSSIFICATION ANOMALY WITH PSYCHOMOTOR DEVELOPMENTAL DELAY SYNDROME CHOOSE Q78.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q04.9 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~IFA 237889002 | Autosomal dominant hypophosphatemic rickets | 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPGROUP~4 6011000124106~MAPADVICE~IF AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC BONE DISEASE CHOOSE E83.31 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF OCULOCEREBRODENTAL SYNDROME CHOOSE Q15.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~IF FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS CHOOSE E83.32 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 722107005 | Ossification anomaly with psychomotor developmental delay syndrome | 447562003~MAPTARGET~Q79.8 447562003~MAPADVICE~ALWAYS Q79.8 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF DOMINANT HYPOPHOSPHATEMIA WITH NEPHROLITHIASIS AND/OR OSTEOPOROSIS CHOOSE N20.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~E83.31 6011000124106~MAPGROUP~3 6011000124106~MAPTARGET~M81.8 6011000124106~MAPPRIORITY~3 6011000124106~MAPADVICE~IF DOMINANT HYPOPHOSPHATEMIA WITH NEPHROLITHIASIS AND/OR OSTEOPOROSIS CHOOSE M81.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 237890006 | Autosomal dominant hypophosphatemic bone disease | 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~E72.09 6011000124106~MAPTARGET~Q78.9 |
|
| tui |
T019 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/RCD/X78BI | RCD | CUI | |
| http://purl.bioontology.org/ontology/SCTSPA/254117007 | SCTSPA | CUI |