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70156005: Anomaly of chromosome pair 21 (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
1001041000172116 anomalie du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
116517019 Anomaly of chromosome pair 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
458951000241116 anomalie du chromosome 21 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
810181019 Anomaly of chromosome pair 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


25 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
anomalie du chromosome 21 est un(e) (attribut) Anomaly of chromosome pair true Inferred relationship Some
anomalie du chromosome 21 morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
anomalie du chromosome 21 est un(e) (attribut) Anomaly of sex chromosome false Inferred relationship Some
anomalie du chromosome 21 morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
anomalie du chromosome 21 localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 1
anomalie du chromosome 21 survenue (attribut) congénital true Inferred relationship Some 1
anomalie du chromosome 21 morphologie associée (attribut) Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
anomalie du chromosome 21 localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) true Inferred relationship Some 1
anomalie du chromosome 21 morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
anomalie du chromosome 21 localisation d'une constatation (attribut) Chromosome pair 21 (cell structure) false Inferred relationship Some 1
anomalie du chromosome 21 localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
anomalie du chromosome 21 survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Maternal uniparental disomy of chromosome 21 est un(e) (attribut) True anomalie du chromosome 21 Inferred relationship Some
Distal duplication of chromosome 21 est un(e) (attribut) False anomalie du chromosome 21 Inferred relationship Some
Translocation Down syndrome (disorder) est un(e) (attribut) False anomalie du chromosome 21 Inferred relationship Some
21q partial monosomy syndrome est un(e) (attribut) False anomalie du chromosome 21 Inferred relationship Some
syndrome du chromosome 21 en anneau (trouble) est un(e) (attribut) True anomalie du chromosome 21 Inferred relationship Some
syndrome de Down (trouble) est un(e) (attribut) True anomalie du chromosome 21 Inferred relationship Some
Complete monosomy 21 (disorder) est un(e) (attribut) True anomalie du chromosome 21 Inferred relationship Some
21q partial trisomy (disorder) est un(e) (attribut) False anomalie du chromosome 21 Inferred relationship Some
Trisomy 21- mitotic nondisjunction mosaicism est un(e) (attribut) False anomalie du chromosome 21 Inferred relationship Some
Deletion of part of chromosome 21 (disorder) est un(e) (attribut) True anomalie du chromosome 21 Inferred relationship Some
Partial trisomy of chromosome 21 est un(e) (attribut) True anomalie du chromosome 21 Inferred relationship Some
Partial trisomy 21 in Down's syndrome est un(e) (attribut) False anomalie du chromosome 21 Inferred relationship Some
Tetrasomy 21 (disorder) est un(e) (attribut) True anomalie du chromosome 21 Inferred relationship Some
Paternal uniparental disomy of chromosome 21 (disorder) est un(e) (attribut) True anomalie du chromosome 21 Inferred relationship Some

This concept is not in any reference sets

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