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726390009: Deletion of part of short arm of chromosome 17 (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
3464780015 Deletion of part of short arm of chromosome 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464781016 Deletion of part of short arm of chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5855861000241112 délétion partielle du bras court du chromosome 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5855871000241116 délétion d'une partie du bras court du chromosome 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of short arm of chromosome 17 (disorder) Is a Deletion of part of chromosome 17 (disorder) true Inferred relationship Some
Deletion of part of short arm of chromosome 17 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of short arm of chromosome 17 (disorder) Finding site Chromosome pair 17 true Inferred relationship Some 2
Deletion of part of short arm of chromosome 17 (disorder) Occurrence Congenital true Inferred relationship Some 3
Deletion of part of short arm of chromosome 17 (disorder) Finding site Chromosome pair 17 true Inferred relationship Some 3
Deletion of part of short arm of chromosome 17 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Deletion of part of short arm of chromosome 17 (disorder) Associated morphology Deletion of short arm true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. Is a True Deletion of part of short arm of chromosome 17 (disorder) Inferred relationship Some
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. Is a True Deletion of part of short arm of chromosome 17 (disorder) Inferred relationship Some

This concept is not in any reference sets

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