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773346008: 20p13 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3723250014 20p13 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723251013 20p subtelomeric deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723252018 Monosomy 20p13 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723253011 20p13 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723254017 A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723250014 20p13 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723251013 20p subtelomeric deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723252018 Monosomy 20p13 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723253011 20p13 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3723254017 A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440821001000117 Mikrodeletionssyndrom 20p13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984801000172118 syndrome de microdélétion 20p13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001921000172112 del(20)(p13) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984801000172118 syndrome de microdélétion 20p13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1001921000172112 del(20)(p13) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440821001000117 Mikrodeletionssyndrom 20p13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
20p13 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
20p13 microdeletion syndrome Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept) 1
20p13 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
20p13 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
20p13 microdeletion syndrome Is a Deletion of part of short arm of chromosome 20 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
20p13 microdeletion syndrome Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept) 1
20p13 microdeletion syndrome Finding site Chromosome pair 20 false Inferred relationship Existential restriction modifier (core metadata concept) 2
20p13 microdeletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
20p13 microdeletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
20p13 microdeletion syndrome Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 2
20p13 microdeletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
20p13 microdeletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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