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726734001: Short stature locking fingers 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
3452298017 Short stature locking fingers syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3452299013 Short stature locking fingers syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3452300017 Eng Strom syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403607013 A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403608015 A rare disorder characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. 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
Short stature locking fingers syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a Congenital disease (disorder) true Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a Disorder of finger true Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a Multisystem disorder false Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a Finger joint locking true Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short stature locking fingers syndrome (disorder) Is a Arthropathy of joint of hand (disorder) true Inferred relationship Some
Short stature locking fingers syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Short stature locking fingers syndrome (disorder) Finding site Finger joint structure true Inferred relationship Some 1
Short stature locking fingers syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short stature locking fingers syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Short stature locking fingers syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 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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