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722476007: Thickened earlobe with conductive deafness syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3332324016 Thickened earlobe with conductive deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3332325015 Thickened earlobe with conductive deafness syndrome en Synonym Active Case insensitive SNOMED CT core
3332326019 Escher Hirt syndrome en Synonym Active Case sensitive SNOMED CT core
3332327011 Syndrome with characteristics of microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Thickened earlobe with conductive deafness syndrome Occurrence Congenital true Inferred relationship Some 1
Thickened earlobe with conductive deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Thickened earlobe with conductive deafness syndrome Occurrence Congenital true Inferred relationship Some 2
Thickened earlobe with conductive deafness syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Thickened earlobe with conductive deafness syndrome Finding site Bone structure of mandible true Inferred relationship Some 1
Thickened earlobe with conductive deafness syndrome Associated morphology Hypoplasia true Inferred relationship Some 1
Thickened earlobe with conductive deafness syndrome Associated morphology Congenital smallness true Inferred relationship Some 2
Thickened earlobe with conductive deafness syndrome Finding site External ear structure true Inferred relationship Some 2
Thickened earlobe with conductive deafness syndrome Occurrence Congenital false Inferred relationship Some 4
Thickened earlobe with conductive deafness syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
Thickened earlobe with conductive deafness syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 4
Thickened earlobe with conductive deafness syndrome Finding site Face structure false Inferred relationship Some 4
Thickened earlobe with conductive deafness syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Congenital micrognathism true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Microtia true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Conductive hearing loss true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Interprets Hearing true Inferred relationship Some 3
Thickened earlobe with conductive deafness syndrome Interprets Functional observable false Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Occurrence Congenital false Inferred relationship Some 5
Thickened earlobe with conductive deafness syndrome Occurrence Congenital false Inferred relationship Some 6
Thickened earlobe with conductive deafness syndrome Associated morphology Congenital smallness false Inferred relationship Some 5
Thickened earlobe with conductive deafness syndrome Finding site External ear structure false Inferred relationship Some 5
Thickened earlobe with conductive deafness syndrome Associated morphology Hypoplasia false Inferred relationship Some 6
Thickened earlobe with conductive deafness syndrome Finding site Bone structure of mandible false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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