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722476007: Thickened earlobe with conductive deafness syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3332325015 Thickened earlobe with conductive deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332326019 Escher Hirt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3894201000052112 syndrom med förtjockad örsnibb och konduktiv dövhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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