722282008: syndroom van agenesie van corpus callosum, verstandelijke beperking, coloboom en micrognathie (aandoening)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Agenesis of corpus callosum	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	coloboom van iris	false	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Congenital micrognathism	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Finding site	Iris structure	false	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Finding site	Entire corpus callosum	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Associated morphology	Hypoplasia	false	Inferred relationship	Some	6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Finding site	Bone structure of mandible	false	Inferred relationship	Some	6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Congenital coloboma of iris	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Finding site	Iris structure	false	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Finding site	Iris structure	true	Inferred relationship	Some	2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Finding site	Bone structure of mandible	true	Inferred relationship	Some	3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Finding site	Entire corpus callosum	true	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Associated morphology	Agenesis (morphologic abnormality)	true	Inferred relationship	Some	1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3331424015	Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331425019	Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331426018	Graham Cox syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6759891000146116	syndroom van agenesie van corpus callosum, mentale retardatie, coloboom en micrognathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6905981000146110	syndroom van Graham-Cox	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7199581000146116	syndroom van agenesie van corpus callosum, verstandelijke beperking, coloboom en micrognathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495901000146119	syndroom van agenesie van corpus callosum, verstandelijke beperking, coloboom en micrognathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7854131000146111	syndroom van agenesie van corpus callosum, verstandelijke handicap, coloboom en micrognathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3331428017	A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core