loading...| Preferred Name |
Multiple malformation syndrome, moderate short stature, facial |
|
| Synonyms |
Multiple malformation syndrome, moderate short stature, facial (disorder) Multiple malformation syndrome, moderate short stature, facial with or without genital features |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/77701002 |
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| Active |
1 |
|
| altLabel |
Multiple malformation syndrome, moderate short stature, facial (disorder) Multiple malformation syndrome, moderate short stature, facial with or without genital features |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
|
| CTV3ID |
XUKmY |
|
| cui |
C0265204 |
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| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
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| Has associated morphology | ||
| Has pathological process | ||
| notation |
77701002 |
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| Occurs in | ||
| prefLabel |
Multiple malformation syndrome, moderate short stature, facial |
|
| Subset member |
447562003~MAPRULE~IFA 14921002 | Aarskog syndrome (disorder) | 6011000124106~MAPADVICE~ALWAYS Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPTARGET~E34.328 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPADVICE~IF THONG DOUGLAS FERRANTE SYNDROME CHOOSE H90.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~ALWAYS Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED 6011000124106~MAPADVICE~IF DOLICHOCEPHALIC DWARFISM CHOOSE E34.328 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~7 447562003~MAPADVICE~IF SMITH-LEMLI-OPITZ SYNDROME CHOOSE Q87.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~IF NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR CHOOSE Q84.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q87.0 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPADVICE~IF NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR CHOOSE Q18.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPTARGET~Q87.1 6011000124106~MAPRULE~IFA 723444009 | Noonan syndrome-like disorder with loose anagen hair | 6011000124106~MAPPRIORITY~8 6011000124106~MAPADVICE~IF DOLICHOCEPHALIC DWARFISM CHOOSE Q67.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 39401000 | Dolichocephalic dwarfism | 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~IF NOONAN'S SYNDROME CHOOSE Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q87.19 6011000124106~MAPADVICE~IF SHORT STATURE WITH VALVULAR HEART DISEASE AND CHARACTERISTIC FACIES SYNDROME CHOOSE Q24.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPTARGET~Q87.8 447562003~MAPGROUP~1 6011000124106~MAPADVICE~IF SHORT STATURE WITH VALVULAR HEART DISEASE AND CHARACTERISTIC FACIES SYNDROME CHOOSE R62.52 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 14921002 | Aarskog syndrome | 6011000124106~MAPADVICE~IF SHORT STATURE WITH VALVULAR HEART DISEASE AND CHARACTERISTIC FACIES SYNDROME CHOOSE Q18.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~CORRELATIONID~447561005 447562003~MAPRULE~OTHERWISE TRUE 6011000124106~MAPTARGET~E34.3 6011000124106~MAPTARGET~Q24.8 6011000124106~MAPCATEGORYID~447637006 447562003~MAPTARGET~Q87.1 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF THONG DOUGLAS FERRANTE SYNDROME CHOOSE Q18.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 205824006 | Noonan's syndrome | 6011000124106~MAPRULE~IFA 716193004 | Short stature with valvular heart disease and characteristic facies syndrome | 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q18.9 6011000124106~MAPRULE~IFA 716192009 | Thong Douglas Ferrante syndrome | 6011000124106~MAPRULE~IFA 43929004 | Smith-Lemli-Opitz syndrome | 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~IF NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR CHOOSE Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF AARSKOG SYNDROME CHOOSE Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPCATEGORYID~447637006 447562003~MAPRULE~IFA 43929004 | Smith-Lemli-Opitz syndrome (disorder) | 6011000124106~MAPRULE~IFA 81771002 | Opitz-Frias syndrome | 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPGROUP~4 6011000124106~MAPPRIORITY~9 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~Q84.2 447562003~MAPPRIORITY~3 447562003~MAPADVICE~IF AARSKOG SYNDROME CHOOSE Q87.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~R62.52 447562003~MAPCATEGORYID~447639009 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED 6011000124106~MAPPRIORITY~6 6011000124106~MAPADVICE~ALWAYS Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED 6011000124106~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS Q87.8 6011000124106~MAPADVICE~IF SMITH-LEMLI-OPITZ SYNDROME CHOOSE E78.72 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~2 6011000124106~MAPRULE~TRUE 6011000124106~MAPTARGET~E78.72 6011000124106~MAPADVICE~IF OPITZ-FRIAS SYNDROME CHOOSE Q99.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~3 6011000124106~MAPADVICE~IF DOLICHOCEPHALIC DWARFISM CHOOSE E34.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000497000~MAPTARGET~XUKmY 6011000124106~MAPTARGET~Q67.2 6011000124106~MAPADVICE~IF THONG DOUGLAS FERRANTE SYNDROME CHOOSE D72.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~D72.9 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF THONG DOUGLAS FERRANTE SYNDROME CHOOSE Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~H90.5 6011000124106~MAPTARGET~Q99.8 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/SCTSPA/77701002 | SCTSPA | CUI | |
| http://purl.bioontology.org/ontology/SNMI/D4-00300 | SNMI | CUI |