772086000: Disproportionate short stature (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding (finding)\General finding of height\Disorder of stature\Short stature disorder\Disproportionate short stature (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Disproportionate short stature (disorder)

\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Disproportionate short stature (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3712595012 Disproportionate short stature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3712596013 Disproportionate short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3712598014 DSS - disproportionate short stature en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disproportionate short stature (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Disproportionate short stature (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Disproportionate short stature (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lethal congenital disproportionate short trunk short stature	Is a	True	Disproportionate short stature (disorder)	Inferred relationship	Some
Lethal congenital disproportionate short limbed short stature (disorder)	Is a	True	Disproportionate short stature (disorder)	Inferred relationship	Some
A rare skeletal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected.	Is a	True	Disproportionate short stature (disorder)	Inferred relationship	Some

This concept is not in any reference sets