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724179008: Laron syndrome with immunodeficiency (disorder)


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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Laron syndrome with immunodeficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) Is a Short stature disorder true Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) Is a Combined immunodeficiency disease true Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2
Laron syndrome with immunodeficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Laron syndrome with immunodeficiency (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) Interprets Height / growth measure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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