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717944002: Branchiogenic deafness syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324418016 Branchiogenic deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3324419012 Branchiogenic deafness syndrome en Synonym Active Case insensitive SNOMED CT core
3324420018 Megarbane Loiselet syndrome en Synonym Active Case sensitive SNOMED CT core
3324421019 A multiple congenital anomalies syndrome, described in one family to date, with characteristics of branchial cysts or fistula, ear malformations, congenital hearing loss (conductive, sensorineural, and mixed), internal auditory canal hypoplasia, strabismus, trismus, abnormal fifth fingers, vitiliginous lesions, short stature and mild learning disability. Renal and urethral abnormalities are absent. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Branchiogenic deafness syndrome Finding site Ear structure true Inferred relationship Some 1
Branchiogenic deafness syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Branchiogenic deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Branchiogenic deafness syndrome Occurrence Congenital true Inferred relationship Some 1
Branchiogenic deafness syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Branchiogenic deafness syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Branchiogenic deafness syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Branchiogenic deafness syndrome Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Branchiogenic deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Branchiogenic deafness syndrome Interprets Hearing true Inferred relationship Some 2
Branchiogenic deafness syndrome Interprets Functional observable false Inferred relationship Some
Branchiogenic deafness syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Branchiogenic deafness syndrome Occurrence Congenital false Inferred relationship Some 3
Branchiogenic deafness syndrome Finding site Ear structure false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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