Domain ID
Concept Class ID
Vocabulary ID
help_outline
Concept ID
Concept code
Validity
Concept
Valid start27-Apr-2025
Valid end27-Apr-2025

Term connections

Relationship	Relates to	Concept id	Vocabulary
Active possibly_equivalent_to inactive (SNOMED)	(Unspecified conditions due to autosomal anomalies) or (aneuploidy NEC)	40402324	SNOMED
	[X]Chromosomal abnormalities, not elsewhere classified	44794592	SNOMED
	[X]Chromosomal abnormalities, not elsewhere classified	40403741	SNOMED
Active same_as inactive (SNOMED)	Chromosomal abnormality	40322472	SNOMED
Active was_a inactive (SNOMED)	Additional chromosome NOS	3536770	SNOMED
	Additional chromosome NOS	4007728	SNOMED
	Aneuploidy NEC	3542165	SNOMED
	Aneuploidy NEC	4114971	SNOMED
	Chromosomal anomalies NOS	3539620	SNOMED
	Chromosomal anomalies NOS	40322478	SNOMED
	Conditions due to anomaly of unspecified chromosome NOS	3541383	SNOMED
	Conditions due to anomaly of unspecified chromosome NOS	4007729	SNOMED
	Deletion of chromosome NOS	3569591	SNOMED
	Deletion of chromosome NOS	4007567	SNOMED
	Mosaicism NOS	3536478	SNOMED
	Mosaicism NOS	4005276	SNOMED
	Other condition due to autosomal anomaly	4004639	SNOMED
	Other sex chromosome abnormality NOS	3538661	SNOMED
	Other sex chromosome abnormality NOS	4007726	SNOMED
	Other sex chromosome anomaly	3538659	SNOMED
	Other sex chromosome anomaly	4004775	SNOMED
	Other specified conditions due to autosomal anomalies	3534918	SNOMED
	Other specified conditions due to autosomal anomalies	4147809	SNOMED
	Other specified sex chromosome anomaly	3535385	SNOMED
	Other specified sex chromosome anomaly	4149230	SNOMED
	Sex chromosome anomaly NOS	3541084	SNOMED
	Sex chromosome anomaly NOS	4007727	SNOMED
	Unspecified conditions due to autosomal anomalies	3534919	SNOMED
	Unspecified conditions due to autosomal anomalies	4145183	SNOMED
	[X]Other specified chromosome abnormalities	44794618	SNOMED
	[X]Other specified chromosome abnormalities	40403752	SNOMED
Associated finding of (SNOMED)	Family history of chromosomal anomaly	4050934	SNOMED
	Family history of fragile X syndrome in first degree relative	44804660	SNOMED
	Suspected chromosome abnormality	4246974	SNOMED
Has Module	SNOMED CT core	40642539	SNOMED
Has associated morphology (SNOMED)	Morphologically abnormal structure	4175951	SNOMED
Has finding site (SNOMED)	Chromosome structure	4193189	SNOMED
Has occurrence (SNOMED)	Congenital	4116830	SNOMED
Has status	Defined	40642537	SNOMED
Is a	Chromosomal disorder	4257441	SNOMED
	Congenital anomaly	40481040	SNOMED
	Congenital disease	440508	SNOMED
Non-standard to Standard map (OMOP)	Congenital chromosomal disease	434153	SNOMED
SNOMED to Indication/Contra-indication	Chromosome Disorders	4344658	NDFRT
Standard to Non-standard map (OMOP)	(Unspecified conditions due to autosomal anomalies) or (aneuploidy NEC)	40402324	SNOMED
	ABNORMAL SEX CHROMOSOME	45528306	OXMIS
	Abnormal sexual development (machine translation)	1427245	ICD10CN
	Additional chromosome NOS	3536770	SNOMED
	Additional chromosome NOS	3130406	Nebraska Lexicon
	Additional chromosome NOS	4007728	SNOMED
	Additional chromosome NOS	45477374	Read
	Aneuploidy NEC	3542165	SNOMED
	Aneuploidy NEC	3139838	Nebraska Lexicon
	Aneuploidy NEC	4114971	SNOMED
	Aneuploidy NEC	45420797	Read
	Autosomal Abnormality	45926996	CIEL
	Chromosomal abnormality	3107219	Nebraska Lexicon
	Chromosomal abnormality	40322472	SNOMED
	Chromosomal abnormality syndrome	3368118	Nebraska Lexicon
	Chromosomal abnormality, unspecified	1427246	ICD10CN
	Chromosomal abnormality, unspecified	1427247	ICD10CN
	Chromosomal abnormality, unspecified	35211260	ICD10CM
	Chromosomal abnormality, unspecified	37093771	ICD10GM
	Chromosomal abnormality, unspecified	37608764	CIM10
	Chromosomal abnormality, unspecified	45563285	ICD10
	Chromosomal anomalies NOS	3539620	SNOMED
	Chromosomal anomalies NOS	3107223	Nebraska Lexicon
	Chromosomal anomalies NOS	3130404	Nebraska Lexicon
	Chromosomal anomalies NOS	4007566	SNOMED
	Chromosomal anomalies NOS	40322478	SNOMED
	Chromosome Deletion	45615364	MeSH
	Chromosome Disorders	45614797	MeSH
	Chromosome abnormality, unspecified	42496776	KCD7
	Condition due to Anomaly of Chromosome	45954812	CIEL
	Conditions due to anomaly of unspecified chromosome NOS	3541383	SNOMED
	Conditions due to anomaly of unspecified chromosome NOS	3130408	Nebraska Lexicon
	Conditions due to anomaly of unspecified chromosome NOS	4007729	SNOMED
	Conditions due to anomaly of unspecified chromosome NOS	45470805	Read
	Congenital chromosomal disease	434153	SNOMED
	Deletion of chromosome NOS	3569591	SNOMED
	Deletion of chromosome NOS	3130407	Nebraska Lexicon
	Deletion of chromosome NOS	4007567	SNOMED
	Mosaicism NOS	3536478	SNOMED
	Mosaicism NOS	3130405	Nebraska Lexicon
	Mosaicism NOS	4005276	SNOMED
	Mosaicism NOS	45510500	Read
	Other Conditions due to Chromosome Anomalies	45907754	CIEL
	Other chromosome abnormalities, NEC	42496771	KCD7
	Other chromosome abnormalities, not elsewhere classified	1427233	ICD10CN
	Other chromosome abnormalities, not elsewhere classified	1572185	ICD10CM
	Other chromosome abnormalities, not elsewhere classified	37093766	ICD10GM
	Other chromosome abnormalities, not elsewhere classified	37607091	CIM10
	Other chromosome abnormalities, not elsewhere classified	45548942	ICD10
	Other condition due to autosomal anomaly	3130372	Nebraska Lexicon
	Other condition due to autosomal anomaly	4004639	SNOMED
	Other condition due to autosomal anomaly	45460508	Read
	Other deletions of part of a chromosome	1595689	ICD10CM
	Other sex chromosome abnormality NOS	3538661	SNOMED
	Other sex chromosome abnormality NOS	3130402	Nebraska Lexicon
	Other sex chromosome abnormality NOS	4007726	SNOMED
	Other sex chromosome abnormality NOS	45523814	Read
	Other sex chromosome anomaly	3538659	SNOMED
	Other sex chromosome anomaly	3130395	Nebraska Lexicon
	Other sex chromosome anomaly	4004775	SNOMED
	Other sex chromosome anomaly	45450496	Read
	Other specified chromosome abnormalities	1427243	ICD10CN
	Other specified chromosome abnormalities	1427244	ICD10CN
	Other specified chromosome abnormalities	35211259	ICD10CM
	Other specified chromosome abnormalities	37093770	ICD10GM
	Other specified chromosome abnormalities	37612338	CIM10
	Other specified chromosome abnormalities	42496775	KCD7
	Other specified chromosome abnormalities	45592405	ICD10
	Other specified conditions due to autosomal anomalies	3534918	SNOMED
	Other specified conditions due to autosomal anomalies	3142782	Nebraska Lexicon
	Other specified conditions due to autosomal anomalies	4147809	SNOMED
	Other specified conditions due to autosomal anomalies	45430608	Read
	Other specified sex chromosome anomaly	3535385	SNOMED
	Other specified sex chromosome anomaly	3142787	Nebraska Lexicon
	Other specified sex chromosome anomaly	4149230	SNOMED
	Other specified sex chromosome anomaly	45460513	Read
	Sex chromosome anomaly NOS	3541084	SNOMED
	Sex chromosome anomaly NOS	3130403	Nebraska Lexicon
	Sex chromosome anomaly NOS	4007727	SNOMED
	Sex chromosome anomaly NOS	45520541	Read
	Unspecified conditions due to autosomal anomalies	3534919	SNOMED
	Unspecified conditions due to autosomal anomalies	3071369	Nebraska Lexicon
	Unspecified conditions due to autosomal anomalies	3142783	Nebraska Lexicon
	Unspecified conditions due to autosomal anomalies	4145183	SNOMED
	Unspecified conditions due to autosomal anomalies	45523813	Read
	[X]Chromosomal abnormalities, not elsewhere classified	44794592	SNOMED
	[X]Other specified chromosome abnormalities	44794618	SNOMED
	[X]Other specified chromosome abnormalities	45517285	Read
	[X]Other specified chromosome abnormalities	40403752	SNOMED
Subsumes	46, XX true hermaphrodite	4004776	SNOMED
	Anomaly of chromosome pair	4178664	SNOMED
	Chimera	4318958	SNOMED
	Chromosome replaced with ring or dicentric	4151883	SNOMED
	Duplication seen only at prometaphase	4004644	SNOMED
	Duplication with other complex rearrangement	4007425	SNOMED
	Emanuel syndrome	45765469	SNOMED
	Group chromosomal alteration	4048537	SNOMED
	Lujan-Fryns syndrome	44789092	SNOMED
	Mosaic variegated aneuploidy syndrome	44784139	SNOMED
	Mosaicism X chromosome 15	3179356	Nebraska Lexicon
	Mowat - Wilson syndrome	44791995	SNOMED
	Pallister-Killian syndrome	4193667	SNOMED
	Polyploidy syndrome	4248867	SNOMED
	Pseudotrisomy 18	4114972	SNOMED
	Ring chromosome	605030	SNOMED
	Triploidy and polyploidy	4114974	SNOMED
	Triploidy, diploidy, mixoploidy syndrome	4007249	SNOMED
	Trisomy and partial trisomy of autosome	4148897	SNOMED
	XXYY syndrome	4300446	SNOMED
	[X]Chromosomal abnormalities, not elsewhere classified	44794592	SNOMED
	[X]Other specified chromosome abnormalities	44794618	SNOMED
Value_as_concept to non-standard map (OMOP)	Personal history of congenital disorders (machine translation)	1435491	ICD10CN
	Personal history of congenital malformations, deformations and chromosomal abnormalities	1435490	ICD10CN
	Personal history of congenital malformations, deformations and chromosomal abnormalities	1435489	ICD10CN

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Definitions

Data Analysis System: a computer system that is used to analyze records or other data, but not if that system is also a Data Creation System

Data Creation System: a computer system that is used to create records or other data that is encoded using HemOnc, for the purposes of facilitating patient care

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Details

Term connections

Athena – OHDSI Vocabularies Repository

License Agreement

SNOMED INTERNATIONAL SNOMED CT LICENSE AGREEMENT

HemOnc license agreement