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763798008: Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3644032013 Microcephalus, complex motor and sensory axonal neuropathy syndrome en Synonym Active Case insensitive SNOMED CT core
3644033015 Microcephaly, complex motor and sensory axonal neuropathy syndrome en Synonym Active Case insensitive SNOMED CT core
3644034014 Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3644037019 An extremely rare subtype of hereditary motor and sensory neuropathy with characteristics of severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalus, complex motor and sensory axonal neuropathy syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Microcephalus, complex motor and sensory axonal neuropathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Interprets Birth head circumference true Inferred relationship Some 2
Microcephalus, complex motor and sensory axonal neuropathy syndrome Finding site Peripheral nervous system structure true Inferred relationship Some 3
Microcephalus, complex motor and sensory axonal neuropathy syndrome Finding site Structure of head true Inferred relationship Some 1
Microcephalus, complex motor and sensory axonal neuropathy syndrome Has interpretation Below reference range true Inferred relationship Some 2
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a Congenital microcephaly true Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a Microcephalus false Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a Congenital anomaly of brain false Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a Hereditary motor and sensory neuropathy true Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Occurrence Congenital false Inferred relationship Some 2
Microcephalus, complex motor and sensory axonal neuropathy syndrome Finding site Peripheral nervous system structure false Inferred relationship Some 2
Microcephalus, complex motor and sensory axonal neuropathy syndrome Occurrence Congenital true Inferred relationship Some 1
Microcephalus, complex motor and sensory axonal neuropathy syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Microcephalus, complex motor and sensory axonal neuropathy syndrome Finding site Brain structure false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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