Preferred Name

Chromosomal disorder
Synonyms

Chromosomal disorder (disorder)
ID

409709004
Full Id

http://purl.bioontology.org/ontology/SNOMEDCT/409709004
associated_with

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency

Immunodeficiency associated with chromosomal abnormality

Chromosome 22 abnormalities with hypogammaglobulinemia

Bloom syndrome

Microcephaly, normal intelligence and immunodeficiency

Triple X syndrome, epilepsy, and hypogammaglobulinemia

Chromosome 18 syndromes and antibody deficiency

Immunodeficiency associated with 18p syndrome

Ataxia-telangiectasia syndrome

Deletion of X-chromosome and hypogammaglobulinemia

Monosomy 22 and absence of immunoglobulin A
cause_of

Male infertility of chromosomal origin
CONCEPTSTATUS

0
CTV3ID

XUbLb
focus_of

Amniocentesis for possible chromosomal abnormality

Chromosome abnormality screening
has_clinical_course

Courses
has_episodicity

Episodicities
has_severity

Severities
isa

Disease
ISPRIMITIVE

1
Semantic_Type

Disease or Syndrome
SNOMEDID

DF-00741
SYNONYM FN

Chromosomal disorder (disorder)
TUI

T047
UMLS_CUI

C0008626
Create New Mapping

Mapping To Ontology Source Comment Relationship Added By Added On Notes
http://purl.bioontology.org/ontology/MDR/10008824 Medical Dictionary for Regulatory Activities NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD9CM/758.9 International Classification of Diseases, Version 9 - Clinical Modification NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/PJ... Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 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 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10010270 Medical Dictionary for Regulatory Activities NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD9CM/758 International Classification of Diseases, Version 9 - Clinical Modification NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/PJz.. Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10/Q99.9 International Classification of Diseases, Version 10 NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/CSP/1254-7954 Computer Retrieval of Information on Scientific Projects Thesaurus NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICPC2P/A90002 International Classification of Primary Care - 2 PLUS NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MSH/D025063 Medical Subject Headings NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://www.ebi.ac.uk/efo/EFO_0003831 Experimental Factor Ontology NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000783 National Drug File NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/RCD/PJzz. Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10008815 Medical Dictionary for Regulatory Activities NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MSH/D025063 Medical Subject Headings NCBO (lexical mapping) skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/ICD10CM/Q99.9 International Classification of Diseases, Version 10 - Clinical Modfication NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10008814 Medical Dictionary for Regulatory Activities NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10067477 Medical Dictionary for Regulatory Activities NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/MDR/10008810 Medical Dictionary for Regulatory Activities NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/NDFRT/N0000000784 National Drug File NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes
http://purl.bioontology.org/ontology/WHO/1107 WHO Adverse Reaction Terminology NLM UMLS (CUI) CUI: C0008626 skos:closeMatch loom 05/21/13 View Notes

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