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880093002: 17q11 deletion syndrome (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
3994484010 17q11 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3994485011 17q11 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3994486012 Neurofibromatosis type 1 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3994487015 Monosomy 17q11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4008406018 Chromosome 17q11.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3994484010 17q11 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3994485011 17q11 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3994486012 Neurofibromatosis type 1 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3994487015 Monosomy 17q11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4008406018 Chromosome 17q11.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
17q11 deletion syndrome (disorder) Is a Neurofibromatosis type 1 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
17q11 deletion syndrome (disorder) Is a Deletion of part of long arm of chromosome 17 true Inferred relationship Existential restriction modifier (core metadata concept)
17q11 deletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q11 deletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q11 deletion syndrome (disorder) Finding site Chromosome pair 17 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q11 deletion syndrome (disorder) Finding site Chromosome pair 17 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
17q11 deletion syndrome (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
17q11 deletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
17q11 deletion syndrome (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
17q11 deletion syndrome (disorder) Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
17q11 deletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
17q11 deletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
17q11 deletion syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
17q11 deletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
17q11 deletion syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
17q11 deletion syndrome (disorder) Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
17q11 deletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q11 deletion syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
17q11 deletion syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
17q11 deletion syndrome (disorder) Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
17q11 deletion syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
17q11 deletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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