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717761005: Choroideremia with deafness and obesity syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3310365015 Choroideremia with deafness and obesity syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3310366019 Choroideremia with deafness and obesity syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3310370010 Choroideraemia with deafness and obesity syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3310384017 Ayazi syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3850132014 Xq21 microdeletion syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Choroideremia with deafness and obesity syndrome Is a Hereditary retinal dystrophy false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a Obesity true Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Has definitional manifestation Obese false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Interprets Hearing, function false Inferred relationship Existential restriction modifier 4
Choroideremia with deafness and obesity syndrome Interprets Functional observable false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Associated morphology Dystrophy false Inferred relationship Existential restriction modifier 5
Choroideremia with deafness and obesity syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Choroideremia with deafness and obesity syndrome Finding site Retinal structure false Inferred relationship Existential restriction modifier 5
Choroideremia with deafness and obesity syndrome Is a Choroideremia true Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a Mixed conductive AND sensorineural hearing loss false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Associated morphology Degeneration false Inferred relationship Existential restriction modifier 1
Choroideremia with deafness and obesity syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 1
Choroideremia with deafness and obesity syndrome Finding site Choroidal structure true Inferred relationship Existential restriction modifier 1
Choroideremia with deafness and obesity syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Choroideremia with deafness and obesity syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier 2
Choroideremia with deafness and obesity syndrome Interprets Measured body weight true Inferred relationship Existential restriction modifier 3
Choroideremia with deafness and obesity syndrome Is a Congenital sensorineural hearing loss false Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Choroideremia with deafness and obesity syndrome Is a Anomaly of chromosome X true Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 5
Choroideremia with deafness and obesity syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 5
Choroideremia with deafness and obesity syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier 3
Choroideremia with deafness and obesity syndrome Finding site Sex chromosome X true Inferred relationship Existential restriction modifier 6
Choroideremia with deafness and obesity syndrome Interprets Hearing, function true Inferred relationship Existential restriction modifier 5
Choroideremia with deafness and obesity syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Choroideremia with deafness and obesity syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Choroideremia with deafness and obesity syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 2
Choroideremia with deafness and obesity syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Choroideremia with deafness and obesity syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 6
Choroideremia with deafness and obesity syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 6
Choroideremia with deafness and obesity syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
Choroideremia with deafness and obesity syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 6
Choroideremia with deafness and obesity syndrome Finding site Ear structure true Inferred relationship Existential restriction modifier 4
Choroideremia with deafness and obesity syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a Congenital mixed conductive and sensorineural hearing loss true Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a X-linked sensorineural hearing loss true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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