SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Spherophakia

Synonyms

Spherophakia (disorder)

Congenital spherophakia

ID

http://purl.bioontology.org/ontology/SNOMEDCT/4465002

Active

1

altLabel

Spherophakia (disorder)

Congenital spherophakia

CASE SIGNIFICANCE ID

900000000000448009

CTV3ID

P3360

cui

C0266542

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/38022006

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/78076003

Has pathological process

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

notation

4465002

Occurs in

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

prefLabel

Spherophakia

Subset member

6011000124106~MAPADVICE~IF ICHTHYOSIS, SHORT STATURE, BRACHYDACTYLY, MICROSPHEROPHAKIA SYNDROME CHOOSE Q80.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q73.8

6011000124106~MAPADVICE~IF GLAUCOMA, ECTOPIA, MICROSPHEROPHAKIA, STIFF JOINT, SHORT STATURE SYNDROME CHOOSE Q12.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~IF MICROSPHEROPHAKIA WITH METAPHYSEAL DYSPLASIA SYNDROME CHOOSE Q12.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPPRIORITY~4

6011000124106~MAPADVICE~IF ICHTHYOSIS, SHORT STATURE, BRACHYDACTYLY, MICROSPHEROPHAKIA SYNDROME CHOOSE Q73.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF GEMSS SYNDROME CHOOSE Q68.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000497000~MAPTARGET~P3360

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

6011000124106~MAPTARGET~Q87.0

6011000124106~MAPADVICE~IF GLAUCOMA, ECTOPIA, MICROSPHEROPHAKIA, STIFF JOINT, SHORT STATURE SYNDROME CHOOSE Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPADVICE~IF GEMSS SYNDROME CHOOSE Q12.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q87.1

6011000124106~MAPRULE~IFA 722450007 | GEMSS syndrome |

6011000124106~MAPRULE~IFA 783551005 | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |

900000000000508004~ACCEPTABILITYID~900000000000549004

6011000124106~MAPTARGET~Q87.19

447562003~MAPGROUP~1

447562003~CORRELATIONID~447561005

6011000124106~MAPADVICE~ALWAYS Q12.4

6011000124106~MAPTARGET~Q80.9

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPRULE~IFA 722450007 | Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) |

6011000124106~MAPADVICE~IF ICHTHYOSIS, SHORT STATURE, BRACHYDACTYLY, MICROSPHEROPHAKIA SYNDROME CHOOSE Q12.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF WEILL-MARCHESANI SYNDROME CHOOSE Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF GEMSS SYNDROME CHOOSE Q15.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

6011000124106~MAPRULE~IFA 2884008 | Weill-Marchesani syndrome |

447562003~MAPCATEGORYID~447637006

447562003~MAPADVICE~ALWAYS Q12.4

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPPRIORITY~5

6011000124106~MAPGROUP~4

6011000124106~MAPTARGET~Q68.8

447562003~MAPTARGET~Q12.4

6011000124106~MAPADVICE~IF GEMSS SYNDROME CHOOSE Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPRULE~IFA 2884008 | Weill-Marchesani syndrome (disorder) |

6011000124106~MAPPRIORITY~1

6011000124106~CORRELATIONID~447561005

6011000124106~MAPTARGET~Q78.5

6011000124106~MAPADVICE~IF GLAUCOMA, ECTOPIA, MICROSPHEROPHAKIA, STIFF JOINT, SHORT STATURE SYNDROME CHOOSE Q68.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF GLAUCOMA, ECTOPIA, MICROSPHEROPHAKIA, STIFF JOINT, SHORT STATURE SYNDROME CHOOSE Q15.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF MICROSPHEROPHAKIA WITH METAPHYSEAL DYSPLASIA SYNDROME CHOOSE Q78.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPGROUP~3

6011000124106~MAPRULE~IFA 724140002 | Microspherophakia with metaphyseal dysplasia syndrome |

6011000124106~MAPPRIORITY~3

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPTARGET~Q15.0

6011000124106~MAPPRIORITY~2

6011000124106~MAPADVICE~IF ICHTHYOSIS, SHORT STATURE, BRACHYDACTYLY, MICROSPHEROPHAKIA SYNDROME CHOOSE Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF GEMSS SYNDROME CHOOSE Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~Q12.4

tui

T019

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/419281007

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10041513 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q12.4 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10041512 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/4465002 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10041512 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU039374 OMIM CUI
http://purl.bioontology.org/ontology/RCD/P3360 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10041512 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q12.4 ICD10 CUI
http://purl.bioontology.org/ontology/SNMI/D4-A0164 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10041513 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10041513 MEDDRA CUI
http://purl.obolibrary.org/obo/MP_0031317 MP LOOM
http://purl.obolibrary.org/obo/HP_0034375 HP LOOM
http://purl.obolibrary.org/obo/MP_0031317 UPHENO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q12.4 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q12.4 ICD10CM LOOM
http://purl.obolibrary.org/obo/HP_0034375 UPHENO LOOM
http://purl.bioontology.org/ontology/RCTV2/P336100 RCTV2 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039374 OMIM LOOM
http://purl.jp/bio/4/id/200906009489247430 IOBC LOOM
http://purl.bioontology.org/ontology/RCD/P3360 RCD LOOM
http://purl.bioontology.org/ontology/ICD10/Q12.4 ICD10 LOOM
http://purl.bioontology.org/ontology/SNMI/D4-A0164 SNMI LOOM
http://purl.bioontology.org/ontology/MEDDRA/10041513 MEDDRA LOOM