SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Ocular albinism

Synonyms

Ocular albinism (disorder)

OA - Ocular albinism

ID

http://purl.bioontology.org/ontology/SNOMEDCT/26399002

Active

1

altLabel

Ocular albinism (disorder)

OA - Ocular albinism

CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005

CTV3ID

P3y0.

cui

C0078917

DEFINITION STATUS ID

900000000000074008

Effective time

20220731

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/37257004

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/81745001

Has pathological process

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

notation

26399002

Occurs in

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

prefLabel

Ocular albinism

Subset member

6011000124106~MAPADVICE~IF OCULAR ALBINISM WITH LATE-ONSET SENSORINEURAL DEAFNESS CHOOSE H90.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPRULE~TRUE

6011000124106~MAPTARGET~E70.311

6011000124106~MAPTARGET~E70.319

6011000124106~MAPTARGET~E70.310

6011000124106~MAPADVICE~IF OCULAR ALBINISM-LENTIGINES-DEAFNESS SYNDROME CHOOSE E70.328 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~4

6011000124106~MAPRULE~IFA 78921008 | Autosomal recessive ocular albinism |

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPRULE~IFA 722054007 | Ocular albinism with late-onset sensorineural deafness |

900000000000508004~ACCEPTABILITYID~900000000000549004

6011000124106~MAPRULE~IFA 722054007 | Ocular albinism with late-onset sensorineural deafness (disorder) |

6011000124106~MAPADVICE~IF OCULAR ALBINISM, TYPE I CHOOSE E70.310 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000497000~MAPTARGET~P3y0.

447562003~MAPGROUP~1

6011000124106~MAPADVICE~IF ALAND EYE DISEASE AND OCULAR ALBINISM CHOOSE E70.310 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPADVICE~ALWAYS E70.319 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

6011000124106~MAPRULE~IFA 265569002 | Aland eye disease and ocular albinism (disorder) |

6011000124106~MAPADVICE~ALWAYS E70.319

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPRULE~IFA 52171000 | Ocular albinism-lentigines-deafness syndrome |

447562003~MAPPRIORITY~1

6011000124106~MAPTARGET~E70.328

447562003~MAPCATEGORYID~447637006

6011000124106~MAPRULE~IFA 78642008 | Ocular albinism, type I (disorder) |

6011000124106~MAPADVICE~IF OCULAR ALBINISM WITH CONGENITAL SENSORINEURAL DEAFNESS CHOOSE H90.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPRULE~IFA 78642008 | Ocular albinism, type I |

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

447562003~MAPTARGET~E70.3

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPADVICE~IF OCULAR ALBINISM WITH LATE-ONSET SENSORINEURAL DEAFNESS CHOOSE E70.310 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF AUTOSOMAL RECESSIVE OCULAR ALBINISM CHOOSE E70.311 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~1

6011000124106~MAPRULE~IFA 78921008 | Autosomal recessive ocular albinism (disorder) |

6011000124106~CORRELATIONID~447561005

6011000124106~MAPRULE~IFA 52171000 | Ocular albinism-lentigines-deafness syndrome (disorder) |

6011000124106~MAPRULE~IFA 773575001 | Ocular albinism with congenital sensorineural deafness |

6011000124106~MAPRULE~TRUE

6011000124106~MAPRULE~IFA 265569002 | Aland eye disease and ocular albinism |

6011000124106~MAPPRIORITY~3

900000000000509007~ACCEPTABILITYID~900000000000549004

447562003~MAPADVICE~ALWAYS E70.3

6011000124106~MAPPRIORITY~2

6011000124106~MAPTARGET~H90.5

tui

T019

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/19416009

http://purl.bioontology.org/ontology/SNOMEDCT/363343008

http://purl.bioontology.org/ontology/SNOMEDCT/15890002

http://purl.bioontology.org/ontology/SNOMEDCT/301905003

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D6-A2500 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10065276 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10065276 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/P3y0. RCD CUI
http://purl.bioontology.org/ontology/MESH/D016117 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D016117 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU037236 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/26399002 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.319 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10065276 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003371 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.31 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/26399002 NLMVS SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017304 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001107 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0017304 MONDO LOOM
http://purl.obolibrary.org/obo/MP_0006159 MP LOOM
http://purl.obolibrary.org/obo/HP_0001107 HP LOOM
http://purl.bioontology.org/ontology/MEDDRA/10065276 MEDDRA LOOM
http://purl.obolibrary.org/obo/MP_0006159 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0006159 CHIRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_20623 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_0050633 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050633 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050633 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050633 FNS-H LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0078917 OCHV LOOM
http://purl.bioontology.org/ontology/RCTV2/P3y0.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/P3y0. RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0017304 DOVES LOOM
http://purl.obolibrary.org/obo/HP_0001107 UPHENO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0346 IFAR LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037236 OMIM LOOM
http://www.orpha.net/ORDO/Orphanet_284804 ORDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.31 ICD10CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00006845 PMAPP-PMO LOOM