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733067006: syndroom van telecanthus, hypertelorisme, strabisme en pes cavus (aandoening)


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
6729491000146115 syndroom van telecanthus, hypertelorisme, strabisme en pes cavus (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729501000146113 syndroom van telecanthus, hypertelorisme, strabisme en pes cavus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729511000146110 syndroom van telecanthus, hypertelorisme, scheelzien en holvoet nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729521000146117 Krauss-Herman-Holmes-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729531000146115 syndroom van Krauss-Herman-Holmes nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8687511000146111 syndroom van telecanthus, hypertelorisme, strabismus en pes cavus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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) 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 gebrekkige ontwikkeling (afwijkende morfologie) 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 congenitale deformiteit (afwijkende morfologie) 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 gebrekkige ontwikkeling (afwijkende morfologie) 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
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a congenitale deformiteit van bewegingsapparaat (aandoening) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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