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726393006: Deletion of long arm of chromosome 19 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3463924012 Deletion of long arm of chromosome 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463925013 Deletion of long arm of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463924012 Deletion of long arm of chromosome 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463925013 Deletion of long arm of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5866071000241111 délétion du bras long du chromosome 19 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5866071000241111 délétion du bras long du chromosome 19 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of long arm of chromosome 19 Is a Deletion of part of chromosome 19 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 19 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 19 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of long arm of chromosome 19 Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 19 Finding site Long arm of chromosome (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 19 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of long arm of chromosome 19 Finding site Chromosome pair 19 true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of long arm of chromosome 19 Finding site Chromosome pair 19 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Is a True Deletion of long arm of chromosome 19 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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