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721069005: Short fifth metacarpal insulin resistance syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323320012 Short fifth metacarpal insulin resistance syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323322016 Short fifth metacarpal insulin resistance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402573014 A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402574015 A rare genetic disease characterised by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323320012 Short fifth metacarpal insulin resistance syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323320012 Short fifth metacarpal insulin resistance syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323322016 Short fifth metacarpal insulin resistance syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323322016 Short fifth metacarpal insulin resistance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323325019 This syndrome has characteristics of bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402573014 A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402574015 A rare genetic disease characterised by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442131001000110 Insulinresistenz - kurzes 5. Metakarpale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
927651000172119 syndrome de résistance à l'insuline-cinquièmes métacarpiens courts fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
927651000172119 syndrome de résistance à l'insuline-cinquièmes métacarpiens courts fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442131001000110 Insulinresistenz - kurzes 5. Metakarpale 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
Short fifth metacarpal insulin resistance syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short fifth metacarpal insulin resistance syndrome (disorder) Is a Longitudinal deficiency of metacarpal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Short fifth metacarpal insulin resistance syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Short fifth metacarpal insulin resistance syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Short fifth metacarpal insulin resistance syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Short fifth metacarpal insulin resistance syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short fifth metacarpal insulin resistance syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short fifth metacarpal insulin resistance syndrome (disorder) Finding site Entire fifth metacarpal false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short fifth metacarpal insulin resistance syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short fifth metacarpal insulin resistance syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short fifth metacarpal insulin resistance syndrome (disorder) Finding site Entire fifth metacarpal bone true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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