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723611008: Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498170014 Congenital deafness with split hands and feet en Synonym Active Case insensitive SNOMED CT core
3498171013 Split hand, split foot malformation with sensorineural hearing loss syndrome en Synonym Active Case insensitive SNOMED CT core
3498172018 Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3499905010 An extremely rare genetic syndrome with clinical characteristics of split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. There is evidence this syndrome may be caused by homozygous mutation in the DLX5 gene on chromosome 7q21. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence Congenital true Inferred relationship Some 1
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence Congenital true Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology Congenital absence false Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence Congenital false Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Entire digit false Inferred relationship Some 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Hand structure true Inferred relationship Some 3
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Foot structure true Inferred relationship Some 1
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology Absence true Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Entire lesser toe true Inferred relationship Some 4
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology Absence true Inferred relationship Some 4
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Entire finger true Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence Congenital true Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Adactyly false Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence Congenital true Inferred relationship Some 4
Split hand, split foot malformation with sensorineural hearing loss syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Structure of auditory system true Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Congenital cleft hand true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Sensorineural hearing loss true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Congenital hearing disorder false Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Split foot true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Ear structure false Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome Interprets Hearing true Inferred relationship Some 7
Split hand, split foot malformation with sensorineural hearing loss syndrome Interprets Functional observable false Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence Congenital false Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence Congenital false Inferred relationship Some 7
Split hand, split foot malformation with sensorineural hearing loss syndrome Occurrence Congenital false Inferred relationship Some 8
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Foot structure false Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Hand structure false Inferred relationship Some 7
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology Congenital absence false Inferred relationship Some 8
Split hand, split foot malformation with sensorineural hearing loss syndrome Finding site Entire digit false Inferred relationship Some 8
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 6
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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