763186006: Grubben, De Cock, Borghgraef syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Grubben, De Cock, Borghgraef syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Grubben, De Cock, Borghgraef syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Grubben, De Cock, Borghgraef syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Grubben, De Cock, Borghgraef syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Grubben, De Cock, Borghgraef syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Grubben, De Cock, Borghgraef syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Grubben, De Cock, Borghgraef syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Grubben, De Cock, Borghgraef syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638111014	Developmental delay, hypotonia, extremities hypertrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638112019	Grubben, De Cock, Borghgraef syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638163019	Grubben, De Cock, Borghgraef syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403958012	Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403959016	Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterised by pre- and postnatal growth deficiency, generalised muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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

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