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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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Patterson Stevenson Fontaine syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a Congenital anomaly of face bones true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a Dysostosis true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Patterson Stevenson Fontaine syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Patterson Stevenson Fontaine syndrome (disorder) Finding site Bone structure of face true Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) Finding site Bone structure of extremity false Inferred relationship Some 3
Patterson Stevenson Fontaine syndrome (disorder) Is a Lesion of face true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) Finding site Bone structure of extremity true Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) 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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