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726370000: Deletion of part of long arm of chromosome 3 (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
3464868018 Deletion of part of long arm of chromosome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464869014 Deletion of part of long arm of chromosome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464868018 Deletion of part of long arm of chromosome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464869014 Deletion of part of long arm of chromosome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6056641000241116 délétion partielle du chromosome 3q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056651000241118 délétion partielle du bras long du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056661000241115 monosomie partielle du bras long du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056641000241116 délétion partielle du chromosome 3q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056651000241118 délétion partielle du bras long du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6056661000241115 monosomie partielle du bras long du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of long arm of chromosome 3 (disorder) Is a Deletion of part of chromosome 3 true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of long arm of chromosome 3 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 3 (disorder) Finding site Chromosome pair 3 false Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 3 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 3 (disorder) Finding site Chromosome pair 3 true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 3 (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 3 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
3q29 microdeletion syndrome (disorder) Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3q26q27 microdeletion syndrome Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal deletion of long arm of chromosome 3 Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 3 (disorder) Is a True Deletion of part of long arm of chromosome 3 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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