SNOMED CT

Last uploaded: August 28, 2024
Preferred Name

Chondrodysplasia punctata
Synonyms

Chondrodysplasia punctata (stippled epiphyses) group (disorder)

Chondrodysplasia punctata (stippled epiphyses) group

ID

http://purl.bioontology.org/ontology/SNOMEDCT/278715001

Active

1

altLabel

Chondrodysplasia punctata (stippled epiphyses) group (disorder)

Chondrodysplasia punctata (stippled epiphyses) group

CASE SIGNIFICANCE ID

900000000000448009

CTV3ID

Xa0pI

cui

C0008445

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has associated morphology

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

Has finding site

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

Has pathological process

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

notation

278715001

Occurs in

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

prefLabel

Chondrodysplasia punctata

Subset member

6011000124106~MAPRULE~IFA 56692003 | Rhizomelic chondrodysplasia punctata syndrome (disorder) |

6011000124106~MAPADVICE~IF LYMPHOPENIC AGAMMAGLOBULINEMIA - SHORT-LIMBED DWARFISM SYNDROME CHOOSE D82.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPTARGET~E83.3

447562003~MAPRULE~TRUE

447562003~MAPTARGET~D81.9

6011000124106~MAPPRIORITY~4

447562003~MAPRULE~IFA 76556008 | Hyperphosphatasia-osteoectasia syndrome (disorder) |

6011000124106~MAPADVICE~ALWAYS Q77.3 | DESCENDANTS NOT EXHAUSTIVELY MAPPED

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

6011000124106~MAPTARGET~

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPTARGET~E71.540

6011000124106~MAPGROUP~1

6011000124106~MAPGROUP~2

6011000124106~MAPADVICE~IF LISSENCEPHALY TYPE 3 METACARPAL BONE DYSPLASIA SYNDROME CHOOSE Q68.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPTARGET~Q77.3

6011000124106~MAPTARGET~D82.2

900000000000508004~ACCEPTABILITYID~900000000000549004

447562003~MAPADVICE~IF HYPERPHOSPHATASIA-OSTEOECTASIA SYNDROME CHOOSE E83.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPGROUP~1

900000000000497000~MAPTARGET~Xa0pI

447562003~CORRELATIONID~447561005

6011000124106~MAPADVICE~IF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA SYNDROME CHOOSE E71.540 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPRULE~OTHERWISE TRUE

6011000124106~MAPADVICE~IF LISSENCEPHALY TYPE 3 METACARPAL BONE DYSPLASIA SYNDROME CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPADVICE~IF LYMPHOPENIC AGAMMAGLOBULINEMIA - SHORT-LIMBED DWARFISM SYNDROME CHOOSE D81.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~ALWAYS Q77.3

6011000124106~MAPCATEGORYID~447637006

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPTARGET~Q04.3

900000000000508004~ACCEPTABILITYID~900000000000548007

447562003~MAPPRIORITY~1

447562003~MAPADVICE~ALWAYS Q77.3

447562003~MAPCATEGORYID~447637006

6011000124106~MAPTARGET~Q77.3

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPCATEGORYID~447639009

447562003~MAPPRIORITY~3

447562003~MAPCATEGORYID~447639009

6011000124106~MAPPRIORITY~1

447562003~MAPRULE~IFA 25109007 | Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome (disorder) |

6011000124106~MAPRULE~IFA 25109007 | Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome (disorder) |

6011000124106~CORRELATIONID~447561005

6011000124106~MAPTARGET~Q68.1

447562003~MAPPRIORITY~2

6011000124106~MAPRULE~TRUE

6011000124106~MAPPRIORITY~3

900000000000509007~ACCEPTABILITYID~900000000000549004

6011000124106~MAPPRIORITY~2

6011000124106~MAPRULE~IFA 718720007 | Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) |

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/8447006

http://purl.bioontology.org/ontology/SNOMEDCT/105986008

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Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/278715001 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10087150 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D002806 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q77.3 ICD10 CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A60 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/360507004 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10087150 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000768 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D002806 MESH CUI
http://purl.bioontology.org/ontology/OMIM/MTHU050816 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.3 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10087150 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/Xa0pI RCD CUI
http://purl.obolibrary.org/obo/DOID_2581 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019701 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#2898 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15377 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002806 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12353 HRDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087150 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Chondrodysplasia_Punctata CSEO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.3 ICD10 LOOM
http://purl.jp/bio/4/id/200906065522493237 IOBC LOOM
http://purl.bioontology.org/ontology/MESH/D002806 MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0008445 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036722 PMAPP-PMO LOOM
rgo:12498 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84632 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU050816 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_2581 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2581 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2581 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2581 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2581 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2581 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2581 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2581 FNS-H LOOM
http://purl.bioontology.org/ontology/RCTV2/PG4C.00 RCTV2 LOOM
http://nanbyodata.jp/ontology/NANDO_2201017 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_93442 ORDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.3 ICD10CM LOOM
http://purl.obolibrary.org/obo/OMIT_0004126 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.195 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0019701 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019701 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019701 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C84632 BERO LOOM
http://www.gamuts.net/entity#chondrodysplasia_punctata GAMUTS REST