Preferred Name | Phocomelia | |
Synonyms |
Phocomelia (disorder) Congenital absence of proximal portion of limb Phocomelic dwarf |
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ID |
http://purl.bioontology.org/ontology/SNOMEDCT/22841008 |
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Active |
1 |
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altLabel |
Phocomelia (disorder) Congenital absence of proximal portion of limb Phocomelic dwarf |
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CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
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CTV3ID |
XU9rm |
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cui |
C0031575 |
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DEFINITION STATUS ID |
900000000000074008 |
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Effective time |
20020731 |
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Has associated morphology | ||
Has finding site | ||
Has pathological process | ||
notation |
22841008 |
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Occurs in | ||
prefLabel |
Phocomelia |
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Subset member |
6011000124106~MAPRULE~IFA 715522000 | Phocomelia Schinzel type (disorder) | 6011000124106~MAPADVICE~IF COMPLETE PHOCOMELIA OF LOWER LIMB CHOOSE Q72.10 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 253963009 | Phocomelia of lower limb | 447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 715522000 | Schinzel phocomelia syndrome | 447562003~MAPTARGET~Q73.1 6011000124106~MAPADVICE~IF BILATERAL COMPLETE PHOCOMELIA OF UPPER LIMB CHOOSE Q71.13 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 890405006 | Bilateral complete phocomelia of upper limb | 6011000124106~MAPADVICE~ALWAYS Q73.1 6011000124106~MAPPRIORITY~7 6011000124106~MAPPRIORITY~4 6011000124106~MAPRULE~IFA 253926000 | Phocomelia of upper limb | 6011000124106~MAPRULE~IFA 715506001 | Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) | 6011000124106~MAPTARGET~Q73.1 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPRULE~IFA 55852007 | Complete phocomelia of lower limb | 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPADVICE~IF LONGITUDINAL ABSENCE OF RADIUS AND ULNA CHOOSE Q71.40 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPPRIORITY~10 6011000124106~MAPTARGET~Q71.10 6011000124106~MAPPRIORITY~8 6011000124106~MAPADVICE~IF COMPLETE PHOCOMELIA OF UPPER LIMB CHOOSE Q71.10 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~Q72.10 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 715506001 | Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome | 6011000124106~MAPADVICE~IF PHOCOMELIA OF UPPER LIMB CHOOSE Q71.10 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q71.40 6011000124106~MAPTARGET~I49.8 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 890404005 | Bilateral complete phocomelia of lower limb | 6011000124106~MAPADVICE~IF PHOCOMELIA OF LOWER LIMB CHOOSE Q72.10 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q71.50 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF SCHINZEL PHOCOMELIA SYNDROME CHOOSE Q72.10 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q72.13 447562003~MAPADVICE~ALWAYS Q73.1 6011000124106~MAPADVICE~IF BILATERAL COMPLETE PHOCOMELIA OF LOWER LIMB CHOOSE Q72.13 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPGROUP~4 6011000124106~MAPADVICE~IF PHOCOMELIA SCHINZEL TYPE CHOOSE Q72.10 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF PHOCOMELIA, ECTRODACTYLY, DEAFNESS AND SINUS ARRHYTHMIA SYNDROME CHOOSE Q74.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~9 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF PHOCOMELIA, ECTRODACTYLY, DEAFNESS AND SINUS ARRHYTHMIA SYNDROME CHOOSE I49.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~6 900000000000497000~MAPTARGET~XU9rm 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~IFA 1967001 | Longitudinal absence of radius AND ulna | 6011000124106~MAPADVICE~IF PHOCOMELIA, ECTRODACTYLY, DEAFNESS AND SINUS ARRHYTHMIA SYNDROME CHOOSE H90.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q71.13 6011000124106~MAPTARGET~Q74.8 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPRULE~IFA 78018008 | Complete phocomelia of upper limb | 6011000124106~MAPADVICE~IF PHOCOMELIA, ECTRODACTYLY, DEAFNESS AND SINUS ARRHYTHMIA SYNDROME CHOOSE Q73.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~H90.5 6011000124106~MAPADVICE~IF LONGITUDINAL ABSENCE OF RADIUS AND ULNA CHOOSE Q71.50 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT |
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tui |
T019 |
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Type ID |
900000000000003001 900000000000013009 |
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subClassOf |