SNOMED CT

Last uploaded: August 28, 2024
Preferred Name

Myofibrillar myopathy
Synonyms

Myofibrillar myopathy (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/699269005

Active

1

altLabel

Myofibrillar myopathy (disorder)

CASE SIGNIFICANCE ID

900000000000448009

CTV3ID

XUmb7

cui

C2678065

DEFINITION STATUS ID

900000000000074008

Effective time

20140131

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/127954009

notation

699269005

prefLabel

Myofibrillar myopathy

Subset member

6011000124106~MAPRULE~IFA 783770002 | Alpha-B crystallin-related late-onset myopathy |

6011000124106~MAPRULE~IFA 770627003 | Desmin-related myofibrillar myopathy |

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~IF LATE-ONSET DISTAL MYOPATHY MARKESBERY GRIGGS TYPE CHOOSE G71.09 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~G71.8

6011000124106~MAPADVICE~IF ALPHA-B CRYSTALLIN-RELATED LATE-ONSET MYOPATHY CHOOSE G71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~7

6011000124106~MAPPRIORITY~4

6011000124106~MAPTARGET~G71.09

6011000124106~MAPGROUP~1

900000000000497000~MAPTARGET~XUmb7

6011000124106~MAPADVICE~ALWAYS G72.89 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

6011000124106~MAPRULE~IFA 770558006 | Late-onset distal myopathy Markesbery Griggs type |

6011000124106~MAPRULE~IFA 764992006 | Muscle filaminopathy |

6011000124106~MAPRULE~IFA 782883004 | Fatal infantile hypertonic myofibrillar myopathy |

6011000124106~MAPADVICE~IF FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY CHOOSE G71.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPGROUP~1

6011000124106~MAPADVICE~IF MUSCULAR DYSTROPHY SELCEN TYPE CHOOSE G71.09 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~CORRELATIONID~447561005

6011000124106~MAPADVICE~IF DESMIN-RELATED MYOFIBRILLAR MYOPATHY CHOOSE G71.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~G71.0

6011000124106~MAPADVICE~ALWAYS G72.89

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~IF MUSCLE FILAMINOPATHY CHOOSE G71.29 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPPRIORITY~1

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

447562003~MAPADVICE~ALWAYS G72.8

6011000124106~MAPADVICE~IF DESMIN-RELATED MYOFIBRILLAR MYOPATHY CHOOSE G71.29 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~G72.89

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPADVICE~IF MUSCLE FILAMINOPATHY CHOOSE G71.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 723407009 | Muscular dystrophy Selcen type |

6011000124106~MAPADVICE~IF MUSCULAR DYSTROPHY SELCEN TYPE CHOOSE G71.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~1

6011000124106~MAPPRIORITY~6

6011000124106~CORRELATIONID~447561005

6011000124106~MAPTARGET~G71.2

6011000124106~MAPRULE~TRUE

6011000124106~MAPTARGET~G71.29

6011000124106~MAPPRIORITY~3

6011000124106~MAPPRIORITY~2

447562003~MAPTARGET~G72.8

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/75047002

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10087101 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/699269005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10087101 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/C580316 MESH CUI
http://purl.bioontology.org/ontology/OMIM/MTHU074755 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10087101 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU022743 OMIM CUI
http://purl.obolibrary.org/obo/HP_0003715 HP LOOM
http://purl.obolibrary.org/obo/HP_0003715 UPHENO LOOM
http://purl.bioontology.org/ontology/MESH/C580316 MESH LOOM
http://purl.obolibrary.org/obo/DOID_0080307 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080307 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080307 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0080307 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080307 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0080307 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Myofibrillar_Myopathy CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087101 MEDDRA LOOM
http://www.phoc.org.cn/pmo/class/PMO_00009578 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C83009 BERO LOOM
http://purl.obolibrary.org/obo/MONDO_0018943 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018943 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018943 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C83009 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C580316 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_68 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_593 ORDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU022743 OMIM LOOM