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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
5402964014 Thickened earlobes-conductive deafness syndrome is characterized by 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
5402965010 Thickened earlobes-conductive deafness syndrome is characterised by 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
3332324016 Thickened earlobe with conductive deafness syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402964014 Thickened earlobes-conductive deafness syndrome is characterized by 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
5402965010 Thickened earlobes-conductive deafness syndrome is characterised by 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
3414161001000118 Ohrläppchenverdickung - Schallleitungsschwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
932121000172115 syndrome de lobe de l'oreille épais-surdité de conduction fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950101000172113 syndrome de Escher-Hort fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
932121000172115 syndrome de lobe de l'oreille épais-surdité de conduction fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950101000172113 syndrome de Escher-Hort fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3414161001000118 Ohrläppchenverdickung - Schallleitungsschwerhörigkeit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a Congenital micrognathism true Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a Microtia true Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a Conductive hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Thickened earlobe with conductive deafness syndrome (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Thickened earlobe with conductive deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 5
Thickened earlobe with conductive deafness syndrome (disorder) Finding site External ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Thickened earlobe with conductive deafness syndrome (disorder) Finding site Bone structure of mandible false Inferred relationship Existential restriction modifier (core metadata concept) 6
Thickened earlobe with conductive deafness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thickened earlobe with conductive deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thickened earlobe with conductive deafness syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thickened earlobe with conductive deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thickened earlobe with conductive deafness syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
Thickened earlobe with conductive deafness syndrome (disorder) Finding site External ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Thickened earlobe with conductive deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Thickened earlobe with conductive deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Thickened earlobe with conductive deafness syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Thickened earlobe with conductive deafness syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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