716996008: Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\L1 syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\L1 syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Congenital hydrocephalus\L1 syndrome

\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome

\Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\L1 syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\L1 syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\L1 syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1719861000168114 Hypoplasia of corpus callosum and intellectual disability with adducted thumbs and spasticity and hydrocephalus syndrome en Synonym Active Case insensitive SNOMED Clinical Terms Australian extension

3308122015 Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome en Synonym Active Case insensitive SNOMED CT core

3308123013 L1 syndrome en Synonym Active Case sensitive SNOMED CT core

3308124019 CRASH syndrome en Synonym Active Case sensitive SNOMED CT core

5155332010 Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5155333017 Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome en Synonym Active Case insensitive SNOMED CT core

3308125018 A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
L1 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
L1 syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
L1 syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
L1 syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
L1 syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	1
L1 syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
L1 syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
L1 syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
L1 syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
L1 syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
L1 syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
L1 syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
L1 syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
L1 syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
L1 syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
L1 syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
L1 syndrome	Is a	Hypoplasia of corpus callosum	true	Inferred relationship	Some
L1 syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
L1 syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
L1 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
L1 syndrome	Finding site	Corpus callosum structure	true	Inferred relationship	Some	2
L1 syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
L1 syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	2
L1 syndrome	Finding site	Brain CSF pathway	false	Inferred relationship	Some	2
L1 syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	3
L1 syndrome	Finding site	Corpus callosum structure	false	Inferred relationship	Some	3
L1 syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
MASA syndrome	Is a	True	L1 syndrome	Inferred relationship	Some
X-linked complicated corpus callosum dysgenesis	Is a	True	L1 syndrome	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1719861000168114	Hypoplasia of corpus callosum and intellectual disability with adducted thumbs and spasticity and hydrocephalus syndrome	en	Synonym	Active	Case insensitive	SNOMED Clinical Terms Australian extension
3308122015	Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3308123013	L1 syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3308124019	CRASH syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5155332010	Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5155333017	Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3308125018	A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner.	en	Definition	Active	Case sensitive	SNOMED CT core