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41040004: Complete trisomy 21 syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1229711010 T21 - Trisomy 21 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2921053011 Downs syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3394526015 trisomie 21 complète fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
426691000241117 syndrome de Down (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
68470016 Complete trisomy 21 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
68471017 Down syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
777783010 Complete trisomy 21 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
92321000172118 syndrome de Down fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
syndrome de Down (trouble) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de Down (trouble) est un(e) (attribut) Congenital malformation true Inferred relationship Some
syndrome de Down (trouble) est un(e) (attribut) Trisomy and partial trisomy of autosome true Inferred relationship Some
syndrome de Down (trouble) est un(e) (attribut) anomalie du chromosome 21 true Inferred relationship Some
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 2
syndrome de Down (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 1
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 2
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 2
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 1
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 2
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 1
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 2
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 1
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 2
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 1
syndrome de Down (trouble) morphologie associée (attribut) Trisomy false Inferred relationship Some 2
syndrome de Down (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
syndrome de Down (trouble) survenue (attribut) congénital true Inferred relationship Some 1
syndrome de Down (trouble) morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) true Inferred relationship Some 1
syndrome de Down (trouble) survenue (attribut) congénital false Inferred relationship Some
syndrome de Down (trouble) localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
syndrome de Down (trouble) morphologie associée (attribut) Trisomy true Inferred relationship Some 1
syndrome de Down (trouble) morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
syndrome de Down (trouble) localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder) est un(e) (attribut) True syndrome de Down (trouble) Inferred relationship Some
Translocation Down syndrome (disorder) est un(e) (attribut) True syndrome de Down (trouble) Inferred relationship Some
Trisomy 21- meiotic nondisjunction est un(e) (attribut) True syndrome de Down (trouble) Inferred relationship Some
Trisomy 21- mitotic nondisjunction mosaicism est un(e) (attribut) True syndrome de Down (trouble) Inferred relationship Some
Suspect trisomy 21 fetus constatation associée (attribut) True syndrome de Down (trouble) Inferred relationship Some 1
antécédents familiaux de trisomie 21 complète constatation associée (attribut) False syndrome de Down (trouble) Inferred relationship Some 1
Suspected Downs syndrome constatation associée (attribut) False syndrome de Down (trouble) Inferred relationship Some 1
antécédents familiaux de trisomie 21 complète constatation associée (attribut) True syndrome de Down (trouble) Inferred relationship Some 1
Suspected Downs syndrome constatation associée (attribut) True syndrome de Down (trouble) Inferred relationship Some 1
dépistage de la trisomie 21 chez la mère a pour objet (attribut) False syndrome de Down (trouble) Inferred relationship Some
Down's screening - blood test a pour objet (attribut) True syndrome de Down (trouble) Inferred relationship Some 3
Downs screening test a pour objet (attribut) True syndrome de Down (trouble) Inferred relationship Some 2
antécédents familiaux de trisomie 21 complète constatation associée (attribut) False syndrome de Down (trouble) Inferred relationship Some 1
Suspect trisomy 21 fetus constatation associée (attribut) False syndrome de Down (trouble) Inferred relationship Some 1
Down's syndrome NOS est un(e) (attribut) False syndrome de Down (trouble) Inferred relationship Some
Fetus with complete trisomy 21 syndrome (disorder) est un(e) (attribut) False syndrome de Down (trouble) Inferred relationship Some
Periodontitis co-occurrent with Down syndrome est un(e) (attribut) False syndrome de Down (trouble) Inferred relationship Some
Myeloid leukemia co-occurrent with Down syndrome (disorder) est un(e) (attribut) True syndrome de Down (trouble) Inferred relationship Some
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) est un(e) (attribut) True syndrome de Down (trouble) Inferred relationship Some
Dementia with Down syndrome Due to True syndrome de Down (trouble) Inferred relationship Some 1
Dementia with Down syndrome est un(e) (attribut) True syndrome de Down (trouble) Inferred relationship Some

This concept is not in any reference sets

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