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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
5403707017 Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by 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, and radiographic findings including flared metaphyses of the long bones and osteopenia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403708010 Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterised by 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, and radiographic findings including flared metaphyses of the long bones and osteopenia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403707017 Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by 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, and radiographic findings including flared metaphyses of the long bones and osteopenia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403708010 Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterised by 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, and radiographic findings including flared metaphyses of the long bones and osteopenia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
603011000274119 Syndrom mit Telekanthus, Hypertelorismus, Strabismus und Pes cavus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395291001000110 Telekanthus - Hypertelorismus - Strabismus - Pes cavus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
985261000172117 syndrome de télécanthus-hypertélorisme-strabisme-pied creux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
985261000172117 syndrome de télécanthus-hypertélorisme-strabisme-pied creux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603011000274119 Syndrom mit Telekanthus, Hypertelorismus, Strabismus und Pes cavus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395291001000110 Telekanthus - Hypertelorismus - Strabismus - Pes cavus 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
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Hypertelorism true Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Congenital anomaly of eyelid true Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Congenital strabismus true Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Congenital pes cavus true Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Telecanthus (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Interprets Form of foot false Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Musculoskeletal structure of foot false Inferred relationship Existential restriction modifier (core metadata concept) 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Sphenoid bone structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Structure of palpebral fissure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Is a Congenital deformity of foot (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Claw-shaped deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Foot structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Sphenoid bone structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Finding site Structure of palpebral fissure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology Deformity (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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