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74345006: Congenital disorder due to abnormality of chromosome number OR structure (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
123461015 Chromosomopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123462010 Chromosomal abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123463017 Chromosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123470017 Chromosomal imbalance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123471018 Anomaly of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
200444011 Congenital chromosomal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
814834012 Congenital disorder due to abnormality of chromosome number OR structure (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2770449010 Congenital disorder due to abnormality of chromosome number OR structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123461015 Chromosomopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123461015 Chromosomopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123462010 Chromosomal abnormality syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123462010 Chromosomal abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123463017 Chromosomal hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123463017 Chromosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123470017 Chromosomal imbalance syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123470017 Chromosomal imbalance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
123471018 Anomaly of chromosome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
123471018 Anomaly of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
200444011 Congenital chromosomal disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
200444011 Congenital chromosomal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
814834012 Congenital disorder due to abnormality of chromosome number OR structure (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2770449010 Congenital disorder due to abnormality of chromosome number OR structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
918411000195115 disturbo congenito dovuto a un'anomalia del numero o della struttura dei cromosomi it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
123441000077115 maladie chromosomique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
123441000077115 maladie chromosomique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918411000195115 disturbo congenito dovuto a un'anomalia del numero o della struttura dei cromosomi it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

683 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital chromosomal disease Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chromosomal disease Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chromosomal disease Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chromosomal disease Is a Chromosomal disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chromosomal disease Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chromosomal disease Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chromosomal disease Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chromosomal disease Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chromosomal disease Is a Congenital anomaly false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chromosomal disease Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chromosomal disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chromosomal disease Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chromosomal disease Finding site Chromosome structure (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital chromosomal disease Is a Chromosomal disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Triploidy, diploidy, mixoploidy syndrome (disorder) Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy and deletion from autosome (disorder) Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Duplication seen only at prometaphase (disorder) Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Duplication with other complex rearrangement Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chimera 46, XX; 46, XY Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
cariotype 46 XX de type hermaphrodisme Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Triploidy and polyploidy Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Balanced rearrangement and structural marker (disorder) Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome replaced with ring or dicentric Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy and partial trisomy of autosome Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X syndrome Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive ocular albinism (disorder) Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of chromosome (disorder) Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Absence of sex chromosome Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Pseudotrisomy 18 Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Other condition due to autosomal anomaly Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Other sex chromosome anomaly Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal anomalies NOS Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
[X]Chromosomal abnormalities, not elsewhere classified Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified chromosome abnormalities Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Family history of chromosomal anomaly (situation) Associated finding False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Pallister-Killian syndrome Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal chromosomal disorder (disorder) Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
XXYY syndrome Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chimera (disorder) Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Group chromosomal alteration Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
[X]Townes-Brocks syndrome Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Suspected chromosome abnormality Associated finding False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Family history of chromosomal anomaly (situation) Associated finding True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Suspected chromosome abnormality Associated finding True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosomal alterations of group A Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal alterations of group C and X Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal alterations of group D Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal alterations of group B Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome X Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
polyploïdie Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal alterations of group E (disorder) Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal alterations of group F Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome Y Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Chromosomal alterations of group G and Y Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of sex chromosome Is a False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Family history of chromosomal anomaly (situation) Associated finding False Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic variegated aneuploidy syndrome (disorder) Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Emanuel syndrome Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome (disorder) Is a True Congenital chromosomal disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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