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763868006: Short stature homeobox related short stature (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3644804015 SHOX-related short stature en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644805019 Short stature homeobox related short stature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644806018 Short stature homeobox related short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644807010 SHOX (short stature homeobox) related short stature en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404252012 SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404253019 SHOX-related short stature is a primary bone dysplasia characterised by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularisation of distal radial epiphyses, pyramidalisation of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644804015 SHOX-related short stature en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644805019 Short stature homeobox related short stature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644806018 Short stature homeobox related short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644807010 SHOX (short stature homeobox) related short stature en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644808017 A primary bone dysplasia with characteristics of height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs. Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404252012 SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404253019 SHOX-related short stature is a primary bone dysplasia characterised by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularisation of distal radial epiphyses, pyramidalisation of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3412421001000111 Kleinwuchs, Shox-bedingter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412421001000111 Kleinwuchs, Shox-bedingter 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 stature homeobox related short stature (disorder) Is a Mesomelic dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
Short stature homeobox related short stature (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature homeobox related short stature (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature homeobox related short stature (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature homeobox related short stature (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature homeobox related short stature (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature homeobox related short stature (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature homeobox related short stature (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature homeobox related short stature (disorder) Clinical course Progressive false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature homeobox related short stature (disorder) Interprets Height / growth measure (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature homeobox related short stature (disorder) Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature homeobox related short stature (disorder) Interprets Body height measure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature homeobox related short stature (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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