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716996008: Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3308121010 Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3308122015 Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3308123013 L1 syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3308124019 CRASH syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a mental retardering false Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a X-linked hereditary disease true Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a Hypoplasia of corpus callosum (disorder) true Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Finding site Corpus callosum structure true Inferred relationship Some 2
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Associated morphology Kongenit dilatation false Inferred relationship Some 2
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 2
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 3
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Finding site Corpus callosum structure false Inferred relationship Some 3
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a Intellectual disability (disorder) true Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Associated morphology Kongenit dilatation false Inferred relationship Some 1
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Some
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 1
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
MASA syndrome Is a True Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Inferred relationship Some
X-linked complicated corpus callosum dysgenesis (disorder) Is a True Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

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