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726369001: Deletion of part 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
3448807014 Deletion of part of chromosome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448808016 Deletion of part of chromosome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448807014 Deletion of part of chromosome 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448808016 Deletion of part of chromosome 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5905461000241113 délétion partielle du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905471000241117 délétion d'une partie du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905461000241113 délétion partielle du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905471000241117 délétion d'une partie du chromosome 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

13 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 3 Is a Anomaly of chromosome pair 3 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 3 Is a Deletion of part of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 3 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 3 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 3 Finding site Chromosome pair 3 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
3p partial monosomy syndrome Is a True Deletion of part of chromosome 3 Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of long arm of chromosome 3 (disorder) Is a True Deletion of part of chromosome 3 Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. Is a True Deletion of part of chromosome 3 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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