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890118006: Mowat-Wilson syndrome due to monosomy 2q22 (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
4009919017 Hirschsprung disease and intellectual disability due to del(2)(q22) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4009920011 Hirschsprung disease and intellectual disability due to monosomy 2q22 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4009921010 Mowat-Wilson syndrome due to monosomy 2q22 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4009922015 Hirschsprung disease and intellectual disability due to 2q22 microdeletion en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4009923013 Mowat-Wilson syndrome due to del(2)q(22) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4009924019 Mowat-Wilson syndrome due to monosomy 2q22 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4009925018 Mowat-Wilson syndrome due to 2q22 microdeletion en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
7689181000241110 maladie de Hirschsprung et déficience intellectuelle dues à une microdélétion 2q22 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7689191000241112 maladie de Hirschsprung et déficience intellectuelle dues à une monosomie 2q22 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7689201000241114 syndrome de Mowat-Wilson dû à une monosomie 2q22 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Is a Mowat-Wilson syndrome (disorder) true Inferred relationship Some
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Associated morphology Dilatation true Inferred relationship Some 3
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Occurrence Congenital true Inferred relationship Some 3
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Finding site Large intestine part true Inferred relationship Some 3
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Finding site Autonomic nerve structure true Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Occurrence Congenital true Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Associated morphology Hypertrophy true Inferred relationship Some 5
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Occurrence Congenital true Inferred relationship Some 5
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Finding site Large intestine part true Inferred relationship Some 5
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Due to Deletion of part of long arm of chromosome 2 (disorder) true Inferred relationship Some 1
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Finding site Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Some 2
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Occurrence Congenital true Inferred relationship Some 2
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Is a Gastrointestinal complication true Inferred relationship Some
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Interprets Intellectual ability true Inferred relationship Some 6
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Has interpretation Impaired true Inferred relationship Some 6
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Has interpretation Impaired true Inferred relationship Some 7
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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