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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Grubben, De Cock, Borghgraef syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Grubben, De Cock, Borghgraef syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Grubben, De Cock, Borghgraef syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\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 (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Grubben, De Cock, Borghgraef syndrome
• \Disease\Developmental disorder (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
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
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	Entire term case sensitive (core metadata concept)	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	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
3419801001000114	Grubben-de-Cock-Borghgraef-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306521000241116	syndrome de retard de développement, hypotonie et hypotrophie des membres	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306531000241119	syndrome de Grubben, de Cock et Borghgraef	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306521000241116	syndrome de retard de développement, hypotonie et hypotrophie des membres	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6306531000241119	syndrome de Grubben, de Cock et Borghgraef	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419801001000114	Grubben-de-Cock-Borghgraef-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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