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

SNOMED CT Concept\Clinical finding (finding)\...

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

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome

\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus, complex motor and sensory axonal neuropathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, complex motor and sensory axonal neuropathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3644033015 Microcephaly, complex motor and sensory axonal neuropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3644034014 Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4151221000052117 syndrom med mikrocefali och komplex motorisk och sensorisk axonal neuropati sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Is a	mikrocefali	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 (disorder)	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
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Pathological process (attribute)	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	Head structure	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 (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644032013	Microcephalus, complex motor and sensory axonal neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644033015	Microcephaly, complex motor and sensory axonal neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644034014	Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4151221000052117	syndrom med mikrocefali och komplex motorisk och sensorisk axonal neuropati	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)