SNOMED CT

Last uploaded: November 18, 2019
Preferred Name

Achondroplasia

Synonyms

Achondroplasia (disorder)

ID

http://purl.bioontology.org/ontology/SNOMEDCT/86268005

Active

1

altLabel

Achondroplasia (disorder)

Congenital osteosclerosis

Achondroplastic dwarf

Chondrodystrophia fetalis

Osteosclerosis congenita

Achondroplastic dwarfism

Associated finding of

http://purl.bioontology.org/ontology/SNOMEDCT/64121000119107

CASE SIGNIFICANCE ID

900000000000448009

900000000000020002

CTV3ID

XE1M7

cui

C0001080

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/25723000

http://purl.bioontology.org/ontology/SNOMEDCT/57697001

http://purl.bioontology.org/ontology/SNOMEDCT/55199003

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/113192009

http://purl.bioontology.org/ontology/SNOMEDCT/43719000

http://purl.bioontology.org/ontology/SNOMEDCT/272673000

Has pathological process

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

notation

86268005

Occurs in

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

prefLabel

Achondroplasia

Subset member

6011000124106~MAPPRIORITY~1

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE R62.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) |

447562003~MAPGROUP~2

447562003~MAPGROUP~3

6011000124106~MAPTARGET~R62.50

6011000124106~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) |

447562003~MAPTARGET~F81.9

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPTARGET~L83

447562003~MAPRULE~OTHERWISE TRUE

447562003~MAPGROUP~1

447562003~MAPCATEGORYID~447639009

900000000000497000~MAPTARGET~XE1M7

447562003~MAPPRIORITY~2

447562003~MAPCATEGORYID~447637006

6011000124106~MAPCATEGORYID~447637006

6011000124106~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans |

6011000124106~MAPRULE~TRUE

447562003~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE Q82.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPTARGET~Q77.4

6011000124106~MAPGROUP~1

6011000124106~MAPTARGET~Q77.4

6011000124106~MAPCATEGORYID~447639009

447562003~MAPCATEGORYID~447638001

6011000124106~MAPGROUP~2

6011000124106~CORRELATIONID~447561005

6011000124106~MAPCATEGORYID~447638001

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE L83 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPTARGET~

6011000124106~MAPGROUP~3

447562003~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPTARGET~

447562003~MAPRULE~TRUE

6011000124106~MAPADVICE~ALWAYS Q77.4

447562003~MAPPRIORITY~1

447562003~CORRELATIONID~447561005

447562003~MAPTARGET~Q82.8

447562003~MAPADVICE~ALWAYS Q77.4

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

6011000124106~MAPPRIORITY~2

447562003~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE F81.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000549004

tui

T019

Type ID

900000000000013009

900000000000003001

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/254043005

http://purl.bioontology.org/ontology/SNOMEDCT/240172008

http://purl.bioontology.org/ontology/SNOMEDCT/2391001

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10000453 MEDDRA CUI
http://www.gamuts.net/entity#achondroplasia GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080 OCHV LOOM
http://purl.bioontology.org/ontology/ICPC2P/L82001 ICPC2P CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia PEDTERM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://purl.bioontology.org/ontology/MDRFRE/10000452 MDRFRE CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 MONDO LOOM
http://purl.bioontology.org/ontology/OMIM/134934 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/2715-2940 CRISP CUI
http://purl.jp/bio/4/id/200906065894508826 IOBC LOOM
http://purl.bioontology.org/ontology/MESH/D000130 MESH CUI
http://purl.bioontology.org/ontology/MESH/D000130 MESH LOOM
http://www.projecthalo.com/aura#Achondroplasia AURA LOOM
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD CUI
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD LOOM
http://purl.obolibrary.org/obo/DOID_4480 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4480 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4480 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4480 NIFSTD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480 NATPRO LOOM
http://www.co-ode.org/ontologies/galen#Achondroplasia GALEN LOOM
http://purl.bioontology.org/ontology/SCTSPA/86268005 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X76BI RCD CUI
http://identifiers.org/omim/100800 RETO LOOM
http://identifiers.org/omim/100800 GEXO LOOM
http://identifiers.org/omim/100800 REXO LOOM
http://localhost/plosthes.2017-1#11376 PLOSTHES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017 RH-MESH LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000000281 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/100800 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/100800 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/MDRFRE/10000453 MDRFRE CUI
http://purl.org/skeletome/bonedysplasia#Achondroplasia BDO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000130 RH-MESH LOOM
http://radlex.org/RID/RID34620 RADLEX LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_148 HRDO LOOM
http://purl.bioontology.org/ontology/CST/CHONDRODYST COSTART CUI
http://sbmi.uth.tmc.edu/ontology/ochv#628 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP LOOM