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733067006: Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)


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
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) Is a Hypertelorism true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Congenital structural abnormality of eyelid true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Congenital strabismus true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Congenital pes cavus true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Telecanthus true Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Interprets Form of foot false Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Congenital deformity false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Musculoskeletal structure of foot (body structure) false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Sphenoid bone structure false Inferred relationship Some 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Structure of palpebral fissure false Inferred relationship Some 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Congenital deformity of foot (disorder) false Inferred relationship Some
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Claw-shaped deformity true Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Foot structure true Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Sphenoid bone structure 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Structure of palpebral fissure true Inferred relationship Some 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Deformity false Inferred relationship Some 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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