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724069009: Patterson Stevenson Fontaine 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
5403213013 Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403214019 Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterised by mandibulofacial dysostosis and limb anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429800010 Patterson Stevenson Fontaine syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429801014 Patterson Stevenson Fontaine syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429802019 Split foot deformity with mandibulofacial dysostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6425661000241119 syndrome Patterson-Stevenson-Fontaine fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6425671000241110 syndrome de pieds fendus et dysostose mandibulofaciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427181001000111 Spalthand mit mandibulofazialer Dysostose 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
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Congenital anomaly of face bones true Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Dysostosis true Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Connective tissue hereditary disorder false Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Associated morphology Congenital dysplasia false Inferred relationship Some 2
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Occurrence Congenital true Inferred relationship Some 2
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Associated morphology Congenital dysplasia false Inferred relationship Some 3
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Occurrence Congenital false Inferred relationship Some 3
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Finding site Bone structure of face true Inferred relationship Some 2
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Finding site Bone structure of limb false Inferred relationship Some 3
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Lesion of face true Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Associated morphology Congenital dysplasia false Inferred relationship Some 1
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Occurrence Congenital true Inferred relationship Some 1
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Finding site Bone structure of limb true Inferred relationship Some 1
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Associated morphology Dysplasia true Inferred relationship Some 2
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Associated morphology Dysplasia true Inferred relationship Some 1
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Developmental hereditary disorder true Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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