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763722004: Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3643494012 Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3643495013 Hypotonia, speech impairment, severe cognitive delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3780952015 IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Degenerative brain disorder true Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Hypotonia, speech impairment, severe cognitive delay syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 2
Hypotonia, speech impairment, severe cognitive delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Hypotonia, speech impairment, severe cognitive delay syndrome Finding site Brain tissue structure true Inferred relationship Existential restriction modifier 1
Hypotonia, speech impairment, severe cognitive delay syndrome Associated morphology Degeneration false Inferred relationship Existential restriction modifier 1
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Congenital anomaly of brain true Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Congenital anomaly of nervous system of head/neck false Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Congenital degeneration of nervous system true Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Hypotonia, speech impairment, severe cognitive delay syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Hypotonia, speech impairment, severe cognitive delay syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Hypotonia, speech impairment, severe cognitive delay syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Hypotonia, speech impairment, severe cognitive delay syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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