718717004: Primary immunodeficiency syndrome due to p14 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primary immunodeficiency syndrome due to p14 deficiency
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primary immunodeficiency syndrome due to p14 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Primary immunodeficiency syndrome due to p14 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary immunodeficiency syndrome due to p14 deficiency
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Primary immunodeficiency syndrome due to p14 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Primary immunodeficiency syndrome due to p14 deficiency
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primary immunodeficiency syndrome due to p14 deficiency

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313317017	Primary immunodeficiency syndrome due to p14 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313320013	Primary immunodeficiency syndrome due to p14 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3313321012	Primary immunodeficiency syndrome with short stature	en	Synonym	Active	Case insensitive	SNOMED CT core
3313322017	This syndrome has characteristics of short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. To date, it has been described in four members of one family. Linkage analysis led to the identification of a homozygous deletion in the coding region of the ROBLD3 gene, resulting in reduced expression of the endosomal adaptor protein p14.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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