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724098008: Monosomy 9q22.3 syndrome (disorder)

Status: current, Not 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
3430703018 Monosomy 9q22.3 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430704012 Monosomy 9q22.3 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430705013 Microdeletion 9q22.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430706014 Monosomy 9q22.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4009498017 9q22.3 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430707017 Syndrome associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Monosomy 9q22.3 syndrome (disorder) Is a 9q partial monosomy syndrome true Inferred relationship Some
Monosomy 9q22.3 syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Monosomy 9q22.3 syndrome (disorder) Finding site Chromosome pair 9 true Inferred relationship Some 2
Monosomy 9q22.3 syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Monosomy 9q22.3 syndrome (disorder) Finding site Chromosome pair 9 true Inferred relationship Some 3
Monosomy 9q22.3 syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Monosomy 9q22.3 syndrome (disorder) Associated morphology Deletion of long arm true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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