Preferred Name

Congenital chromosomal disease

Synonyms

Congenital disorder due to abnormality of chromosome number OR structure

Chromosomal imbalance syndrome

Chromosomal abnormality syndrome

Chromosomal hereditary disorder

Chromosomopathy

Congenital disorder due to abnormality of chromosome number OR structure (disorder)

Anomaly of chromosome

Anomaly of chromosome, NOS

Chromosomal abnormality syndrome, NOS

Chromosomal disease, NOS

Chromosomal hereditary disorder, NOS

Chromosomal imbalance syndrome, NOS

Chromosomopathy, NOS

ID

74345006

Full Id

http://purl.bioontology.org/ontology/SNOMEDCT/74345006

associated_finding_of

FH: Chromosomal anomaly

Suspected chromosome abnormality

CONCEPTSTATUS

0

CTV3ID

PJ...

has_associated_morphology

Congenital anomaly

has_clinical_course

Courses

has_severity

Severities

inverse_may_be_a

(Unspecified conditions due to autosomal anomalies) or (aneuploidy NEC)

inverse_was_a

Deletion of chromosome NOS

Chromosomal anomalies NOS

Sex chromosome anomaly NOS

Other sex chromosome anomaly

Other specified sex chromosome anomaly

Other condition due to autosomal anomaly

Unspecified conditions due to autosomal anomalies

Aneuploidy NEC

Additional chromosome NOS

Other sex chromosome abnormality NOS

Conditions due to anomaly of unspecified chromosome NOS

Mosaicism NOS

Other specified conditions due to autosomal anomalies

Chromosomal anomalies NOS

isa

Congenital anomaly

ISPRIMITIVE

1

occurs_in

Congenital

same_as

Chromosomal abnormality

Semantic_Type

Disease or Syndrome

SNOMEDID

D4-02000

SYNONYM FN

Congenital disorder due to abnormality of chromosome number OR structure (disorder)

SYNONYM IS

Anomaly of chromosome, NOS

Chromosomal abnormality syndrome, NOS

Chromosomal disease, NOS

Chromosomal hereditary disorder, NOS

Chromosomal imbalance syndrome, NOS

Chromosomopathy, NOS

SYNONYM SY

Congenital disorder due to abnormality of chromosome number OR structure

Chromosomal imbalance syndrome

Chromosomal abnormality syndrome

Chromosomal hereditary disorder

Chromosomopathy

Anomaly of chromosome

TUI

T047

UMLS_CUI

C0008626

Create New Mapping

Mapping To Ontology Source Comment Relationship Added By Added On Notes
http://purl.obolibrary.org/obo/DOID_1086 NIF Dysfunction NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD9CM/758 International Classification of Diseases NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_1086 Human disease ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q99.9 ICD10CM NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10008814 MedDRA NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICPC2P/A90002 ICPC-2 PLUS NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/CSP/1254-7954 CRISP Thesaurus, 2006 NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/PJz.. Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_1086 Neuroscience Information Framework Standard ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD10/Q99.9 ICD10 NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/D025063 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10008810 MedDRA NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/CST/CHROMOSOME%20ABNORM Coding Symbols for a Thesaurus of Adverse Reaction Terms NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10008815 MedDRA NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://bioontology.org/projects/ontologies/radlex/radlexOwlDlComponent#RID34837 RadLex NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/WHO/1107 WHO Adverse Reaction Terminology NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10008824 MedDRA NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10010270 MedDRA NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/PJ... Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MDR/10067477 MedDRA NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/PJzz. Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000784 National Drug File NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/ICD9CM/758.9 International Classification of Diseases NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000783 National Drug File NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 04/02/13 View Notes

Map From

Map To


advanced options