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733067006: syndrome de télécanthus-hypertélorisme-strabisme-pied creux (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498665018 Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498666017 Telecanthus, hypertelorism, strabismus, pes cavus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762871000241117 syndrome de télécanthus-hypertélorisme-strabisme-pied creux (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
985261000172117 syndrome de télécanthus-hypertélorisme-strabisme-pied creux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3499955019 Syndrome with characteristics of telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers. Radiographic findings including flared metaphyses of the long bones and osteopenia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) localisation d'une constatation (attribut) structure de l'os sphénoïde (structure corporelle) true Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure true Inferred relationship Some 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) morphologie associée (attribut) Deformity false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) est un(e) (attribut) Hypertelorism true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) est un(e) (attribut) Congenital anomaly of eyelid true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) est un(e) (attribut) Congenital strabismus true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) est un(e) (attribut) Congenital pes cavus true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) est un(e) (attribut) Telecanthus true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) interprète (attribut) Form of foot false Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) morphologie associée (attribut) Congenital deformity (morphologic abnormality) false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of foot false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) localisation d'une constatation (attribut) structure de l'os sphénoïde (structure corporelle) false Inferred relationship Some 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) localisation d'une constatation (attribut) Structure of palpebral fissure false Inferred relationship Some 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) est un(e) (attribut) anomalie morphologique congénitale du pied false Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) morphologie associée (attribut) Claw-shaped deformity true Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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