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726392001: Deletion of part 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
3448853019 Deletion of part of chromosome 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448854013 Deletion of part of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5876141000241112 délétion d'une partie du chromosome 19 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5876151000241110 délétion partielle du chromosome 19 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 19 (disorder) Is a Anomaly of chromosome pair 19 true Inferred relationship Some
Deletion of part of chromosome 19 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 19 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 19 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 19 (disorder) Finding site Chromosome pair 19 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a False Deletion of part of chromosome 19 (disorder) Inferred relationship Some
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 False Deletion of part of chromosome 19 (disorder) Inferred relationship Some
Deletion of long arm of chromosome 19 (disorder) Is a True Deletion of part of chromosome 19 (disorder) Inferred relationship Some
Deletion of short arm of chromosome 19 (disorder) Is a True Deletion of part of chromosome 19 (disorder) Inferred relationship Some
A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). Is a False Deletion of part of chromosome 19 (disorder) Inferred relationship Some

This concept is not in any reference sets

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