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1003449005: Paternal 14q32.2 microdeletion (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4164743018 Paternal 14q32.2 microdeletion (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4164744012 Paternal 14q32.2 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4164745013 Paternal monosomy 14q32.2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4164743018 Paternal 14q32.2 microdeletion (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4164744012 Paternal 14q32.2 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4164745013 Paternal monosomy 14q32.2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6476981000241110 microdélétion paternelle 14q32.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6476981000241110 microdélétion paternelle 14q32.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Paternal 14q32.2 microdeletion (disorder) Is a Deletion of part of chromosome 14 false Inferred relationship Existential restriction modifier (core metadata concept)
Paternal 14q32.2 microdeletion (disorder) Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Paternal 14q32.2 microdeletion (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal 14q32.2 microdeletion (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal 14q32.2 microdeletion (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal 14q32.2 microdeletion (disorder) Finding site Chromosome pair 14 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal 14q32.2 microdeletion (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 14q32.2 microdeletion (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 14q32.2 microdeletion (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 14q32.2 microdeletion (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 14q32.2 microdeletion (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Paternal 14q32.2 microdeletion (disorder) Is a Partial deletion of long arm of chromosome 14 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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