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766721001: disomie uniparentale paternelle du chromosome 7 (trouble)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662388019 Paternal uniparental disomy of chromosome 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662389010 Paternal uniparental disomy of chromosome 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
768261000241114 disomie uniparentale paternelle du chromosome 7 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
946651000172115 disomie uniparentale paternelle du chromosome 7 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3662390018 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662391019 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhoea, sensorineural hearing loss). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Paternal uniparental disomy of chromosome 7 survenue (attribut) congénital true Inferred relationship Some 1
Paternal uniparental disomy of chromosome 7 est un(e) (attribut) Uniparental disomy of paternal origin (disorder) true Inferred relationship Some
Paternal uniparental disomy of chromosome 7 morphologie associée (attribut) Alteration of chromosome structure true Inferred relationship Some 1
Paternal uniparental disomy of chromosome 7 est un(e) (attribut) anomalie du chromosome 7 (trouble) true Inferred relationship Some
Paternal uniparental disomy of chromosome 7 localisation d'une constatation (attribut) Chromosome pair 7 true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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