OMOP Concept 434153

Congenital chromosomal disease

StandardConditionSNOMED74345006Disorder
Maps from
38
Descendants
687
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept

38 source codes normalize to Congenital chromosomal disease via the OMOP "Maps to" relationship.

VocabularyCodeNameType
CIEL119998Other conditions due to chromosome anomaliesNon-standard
CIM10Q99Other chromosome abnormalities, not elsewhere classifiedNon-standard
CIM10Q99.8Other specified chromosome abnormalitiesNon-standard
CIM10Q99.9Chromosomal abnormality, unspecifiedNon-standard
ICD10Q99Other chromosome abnormalities, not elsewhere classifiedNon-standard
ICD10Q99.8Other specified chromosome abnormalitiesNon-standard
ICD10Q99.9Chromosomal abnormality, unspecifiedNon-standard
ICD10CMQ93.59Other deletions of part of a chromosomeNon-standard
ICD10CMQ99Other chromosome abnormalities, not elsewhere classifiedNon-standard
ICD10CMQ99.9Chromosomal abnormality, unspecifiedNon-standard
ICD10CNQ99Other chromosome abnormalities, not elsewhere classifiedNon-standard
ICD10CNQ99.8Other specified chromosome abnormalitiesNon-standard
ICD10CNQ99.800Other specified chromosome abnormalitiesNon-standard
ICD10CNQ99.801Abnormal sexual development (machine translation)Non-standard
ICD10CNQ99.9Chromosomal abnormality, unspecifiedNon-standard
ICD10CNQ99.900Chromosomal abnormality, unspecifiedNon-standard
ICD10GMQ99Other chromosome abnormalities, not elsewhere classifiedNon-standard
ICD10GMQ99.8Other specified chromosome abnormalitiesNon-standard
ICD10GMQ99.9Chromosomal abnormality, unspecifiedNon-standard
KCD7Q99Other chromosome abnormalities, NECNon-standard
KCD7Q99.8Other specified chromosome abnormalitiesNon-standard
KCD7Q99.9Chromosome abnormality, unspecifiedNon-standard
MeSHD002872Chromosome DeletionNon-standard
MeSHD025063Chromosome DisordersNon-standard
Nebraska Lexicon74345006Chromosomal abnormality syndromeNon-standard
OXMIS7595FABNORMAL SEX CHROMOSOMENon-standard
ReadPJ5..00Other condition due to autosomal anomalyNon-standard
ReadPJ5y.00Other specified conditions due to autosomal anomaliesNon-standard
ReadPJ5z.00Unspecified conditions due to autosomal anomaliesNon-standard
ReadPJ5z.11Aneuploidy NECNon-standard
ReadPJy..00Other sex chromosome anomalyNon-standard
ReadPJyy.00Other specified sex chromosome anomalyNon-standard
ReadPJyyz00Other sex chromosome abnormality NOSNon-standard
ReadPJyz.00Sex chromosome anomaly NOSNon-standard
ReadPJz0.00Mosaicism NOSNon-standard
ReadPJz1.00Additional chromosome NOSNon-standard
ReadPJzz.00Conditions due to anomaly of unspecified chromosome NOSNon-standard
ReadPyuA900[X]Other specified chromosome abnormalitiesNon-standard

Synonyms

Alternative names recorded for Congenital chromosomal disease across source vocabularies.

  • aberración cromosómica
  • anomalía de cromosoma
  • Anomaly of chromosome
  • Chromosomal abnormality syndrome
  • Chromosomal hereditary disorder
  • Chromosomal imbalance syndrome
  • Chromosomopathy
  • Congenital disorder due to abnormality of chromosome number OR structure
  • Congenital disorder due to abnormality of chromosome number OR structure (disorder)
  • cromosomopatía
  • enfermedad cromosómica
  • síndrome de anormalidad cromosómica
  • trastorno congénito por una anomalía en la cantidad O la estructura de los cromosomas
  • trastorno congénito por una anomalía en la cantidad O la estructura de los cromosomas (trastorno)
  • trastorno cromosómico hereditario

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Broader concepts

(5)

Roll up to these when you need a wider cohort.

Narrower concepts

(687)

Included automatically when you query with descendants.

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