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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Grubben, De Cock, Borghgraef syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Grubben, De Cock, Borghgraef syndrome
• \Functional finding\Cognitive function 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, Primitive. 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	Active	Case insensitive	SNOMED CT core
3638112019	Grubben, De Cock, Borghgraef syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3638163019	Grubben, De Cock, Borghgraef syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3638113012	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 has also been reported in some patients.	en	Definition	Active	Case sensitive	SNOMED CT core
3638162012	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 has also been reported in some patients.	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

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