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1251453008: Lamb Shaffer syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5133567016 SOX5 haploinsufficiency syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5133568014 Lamb Shaffer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5133569018 Lamb Shaffer syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lamb Shaffer syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Lamb Shaffer syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier
Lamb Shaffer syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Lamb Shaffer syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
Lamb Shaffer syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
Lamb Shaffer syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Lamb Shaffer syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Lamb Shaffer syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Lamb Shaffer syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Lamb Shaffer syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Lamb Shaffer syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Lamb Shaffer syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
12p12.1 microdeletion syndrome Is a True Lamb Shaffer syndrome Inferred relationship Existential restriction modifier
Developmental and speech delay due to SRY-box 5 deficiency Is a True Lamb Shaffer syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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