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699316006: syndrome de Myhre (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1020261000172112 syndrome de dysmorphie faciale, déficience intellectuelle, petite taille, surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
2983758013 Facial dysmorphism, intellectual deficit, short stature and hearing loss en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983767013 Laryngotracheal stenosis, arthropathy, prognathism and short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983775019 Myhre syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2983781010 Myhre syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
730991000241118 syndrome de Myhre (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
995571000172113 syndrome de Myhre fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myhre syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Myhre syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Myhre syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Myhre syndrome est un(e) (attribut) Intellectual disability true Inferred relationship Some
Myhre syndrome est un(e) (attribut) Mixed conductive AND sensorineural hearing loss false Inferred relationship Some
Myhre syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Myhre syndrome est un(e) (attribut) Congenital sensorineural hearing loss (disorder) false Inferred relationship Some
Myhre syndrome est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Myhre syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 1
Myhre syndrome localisation d'une constatation (attribut) oreille true Inferred relationship Some 2
Myhre syndrome survenue (attribut) congénital true Inferred relationship Some 2
Myhre syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Myhre syndrome interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 3
Myhre syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Myhre syndrome interprète (attribut) Height / growth measure true Inferred relationship Some 4
Myhre syndrome est un(e) (attribut) Congenital mixed conductive and sensorineural hearing loss true Inferred relationship Some
Myhre syndrome est un(e) (attribut) syndrome de malformations multisystémiques false Inferred relationship Some
Myhre syndrome est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Myhre syndrome survenue (attribut) congénital false Inferred relationship Some
Myhre syndrome morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Myhre syndrome survenue (attribut) congénital true Inferred relationship Some 1
Myhre syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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