FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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


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

Descriptions:

Id Description Lang Type Status Case? Module
3308122015 Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3308123013 L1 syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3308124019 CRASH syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5155332010 Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5155333017 Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a Hypoplasia of corpus callosum true Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 2
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Finding site Corpus callosum structure true Inferred relationship Existential restriction modifier 2
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier 2
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Finding site Structure of brain cerebrospinal fluid pathway false Inferred relationship Existential restriction modifier 2
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier 3
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Finding site Corpus callosum structure false Inferred relationship Existential restriction modifier 3
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier 1
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Finding site Structure of brain cerebrospinal fluid pathway true Inferred relationship Existential restriction modifier 1
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a Congenital hydrocephalus true Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier 1
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group
Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome Is a True Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Inferred relationship Existential restriction modifier
X-linked complicated corpus callosum dysgenesis Is a True Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

Back to Start