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880093002: 17q11 deletion syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3994484010 17q11 deletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3994485011 17q11 deletion syndrome en Synonym Active Case insensitive SNOMED CT core
3994486012 Neurofibromatosis type 1 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core
3994487015 Monosomy 17q11 en Synonym Active Case insensitive SNOMED CT core
4008406018 Chromosome 17q11.2 deletion syndrome en Synonym Active Case insensitive SNOMED CT core
3994488013 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. en Definition Active Case sensitive SNOMED CT core
4008405019 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterised by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
17q11 deletion syndrome Is a Neurofibromatosis type 1 true Inferred relationship Some
17q11 deletion syndrome Is a Deletion of part of long arm of chromosome 17 true Inferred relationship Some
17q11 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 1
17q11 deletion syndrome Occurrence Congenital true Inferred relationship Some 1
17q11 deletion syndrome Finding site Chromosome pair 17 true Inferred relationship Some 1
17q11 deletion syndrome Finding site Chromosome pair 17 false Inferred relationship Some 2
17q11 deletion syndrome Associated morphology Deletion of long arm false Inferred relationship Some 2
17q11 deletion syndrome Occurrence Congenital true Inferred relationship Some 2
17q11 deletion syndrome Finding site Structure of nervous system true Inferred relationship Some 3
17q11 deletion syndrome Associated morphology Neurofibromatosis true Inferred relationship Some 3
17q11 deletion syndrome Occurrence Congenital true Inferred relationship Some 3
17q11 deletion syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
17q11 deletion syndrome Occurrence Congenital true Inferred relationship Some 4
17q11 deletion syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
17q11 deletion syndrome Finding site Skin structure true Inferred relationship Some 4
17q11 deletion syndrome Associated morphology Neurofibromatosis true Inferred relationship Some 4
17q11 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
17q11 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
17q11 deletion syndrome Is a Developmental hereditary disorder true Inferred relationship Some
17q11 deletion syndrome Is a Congenital anomaly true Inferred relationship Some
17q11 deletion syndrome Finding site Long arm of chromosome true Inferred relationship Some 2
17q11 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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