724179008: Laron syndrome with immunodeficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\This syndrome is characterized by severe growth retardation associated with immunodeficiency.
• \Finding of general physiological development\Disorder of stature\Short stature disorder\This syndrome is characterized by severe growth retardation associated with immunodeficiency.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\This syndrome is characterized by severe growth retardation associated with immunodeficiency.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\This syndrome is characterized by severe growth retardation associated with immunodeficiency.
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\This syndrome is characterized by severe growth retardation associated with immunodeficiency.
• \Disease\Developmental disorder\Developmental hereditary disorder\This syndrome is characterized by severe growth retardation associated with immunodeficiency.
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\This syndrome is characterized by severe growth retardation associated with immunodeficiency.

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
3431587011	This syndrome has characteristics of severe growth retardation associated with immunodeficiency. Less than 10 cases have been described in literature. Individuals present with typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. Immunodeficiency has manifestations of moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract. The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene (STAT5b). Transmission is autosomal recessive.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403271016	This syndrome is characterized by severe growth retardation associated with immunodeficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403272011	This syndrome is characterised by severe growth retardation associated with immunodeficiency.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431583010	Laron syndrome with immunodeficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431584016	Laron syndrome with immunodeficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431585015	Laron-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431586019	Short stature due to STAT5b (signal transducer and activator of transcription 5b) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

Back to Start