SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Phocomelia

Synonyms

Phocomelia (disorder)

Phocomelic dwarf

ID

http://purl.bioontology.org/ontology/SNOMEDCT/22841008

Active

1

altLabel

Phocomelia (disorder)

Congenital absence of proximal portion of limb

Phocomelic dwarf

CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

CTV3ID

XU9rm

cui

C0031575

DEFINITION STATUS ID

900000000000074008

Effective time

20020731

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/418560003

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/120573002

Has pathological process

http://purl.bioontology.org/ontology/SNOMEDCT/308490002

notation

22841008

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

prefLabel

Phocomelia

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

tui

T019

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/60220000

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D004480 MESH CUI
http://purl.bioontology.org/ontology/WHOFRE/0684 WHOFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q73.1 ICD10 CUI
http://purl.bioontology.org/ontology/OMIM/MTHU017168 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10034923 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10034923 MDRGER CUI
http://purl.bioontology.org/ontology/WHO/0684 WHO-ART CUI
http://purl.bioontology.org/ontology/SCTSPA/22841008 SCTSPA CUI
http://purl.bioontology.org/ontology/CST/ECTROMELIA COSTART CUI
http://purl.bioontology.org/ontology/SNMI/D4-12103 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10034923 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D004480 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q73.1 ICD10CM CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Phocomelia CSEO LOOM
http://purl.jp/bio/4/id/200906048372593384 IOBC LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_18560 HRDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00013170 PMAPP-PMO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1496 IFAR LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9644 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU017168 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34928 NCIT LOOM
http://purl.obolibrary.org/obo/HP_0009829 HP LOOM
http://purl.obolibrary.org/obo/HP_0009829 UPHENO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Phocomelia PEDTERM LOOM
http://www.gamuts.net/entity#phocomelia GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C34928 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10034923 MEDDRA LOOM
http://purl.org/obo/owl/HP#HP_0009829 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0031575 OCHV LOOM
http://www.gamuts.net/entity#phocomelia GAMUTS REST