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699310000: 22q13.3 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983744011 Phelan-McDermid syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2983765017 22q13.3 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983769011 Monosomy 22q13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983770012 22q13.3 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555258012 A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
2983744011 Phelan-McDermid syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2983765017 22q13.3 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983765017 22q13.3 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983769011 Monosomy 22q13 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983769011 Monosomy 22q13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983770012 22q13.3 deletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983770012 22q13.3 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555258012 A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3385041001000110 Monosomie 22q13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385041001000110 Monosomie 22q13 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
22q13.3 deletion syndrome Is a trouble multisytémique false Inferred relationship Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome Is a Anomaly of chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q13.3 deletion syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q13.3 deletion syndrome Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q13.3 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q13.3 deletion syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q13.3 deletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q13.3 deletion syndrome Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q13.3 deletion syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q13.3 deletion syndrome Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q13.3 deletion syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome Is a 22q partial monosomy true Inferred relationship Existential restriction modifier (core metadata concept)
22q13.3 deletion 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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