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715421009: dysplasie cranio-fronto-nasale (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1013631000172117 CFND - craniofrontonasal dysplasia fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
1016821000172114 dysplasie cranio-fronto-nasale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3302558010 Craniofrontonasal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302559019 Craniofrontonasal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302560012 Craniofrontonasal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747521000241113 dysplasie cranio-fronto-nasale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3302561011 An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302562016 An X-linked malformation syndrome characterised by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). 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
dysplasie cranio-fronto-nasale morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 1
dysplasie cranio-fronto-nasale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
dysplasie cranio-fronto-nasale est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) X-linked dominant hereditary disease (disorder) true Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) anomalie congénitale du crâne (trouble) true Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) Lesion of face (finding) true Inferred relationship Some
dysplasie cranio-fronto-nasale morphologie associée (attribut) dysplasie true Inferred relationship Some 1
dysplasie cranio-fronto-nasale survenue (attribut) congénital true Inferred relationship Some 2
dysplasie cranio-fronto-nasale localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 2
dysplasie cranio-fronto-nasale morphologie associée (attribut) dysplasie true Inferred relationship Some 2
dysplasie cranio-fronto-nasale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
dysplasie cranio-fronto-nasale est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
dysplasie cranio-fronto-nasale morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
dysplasie cranio-fronto-nasale survenue (attribut) congénital true Inferred relationship Some 1
dysplasie cranio-fronto-nasale localisation d'une constatation (attribut) face true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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