1197059004: Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Rough skin\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Finding of limb structure\Disorder of extremity\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Finding of movement\Involuntary movement\Myoclonus\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Finding of movement\Movement disorder\Extrapyramidal disease\Athetosis\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of all four limbs\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Athetosis\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Extrapyramidal disease\Athetosis\Congenital ichthyosis, microcephalus, tetraplegia syndrome

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

\Finding of head circumference\Microcephaly\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Finding of brain\Disorder of brain\Extrapyramidal disease\Athetosis\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Disorder of head\Disorder of brain\Extrapyramidal disease\Athetosis\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Functional finding\Decline in functional status\Decreased hearing\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Functional finding\Hearing finding\Decreased hearing\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Functional finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Functional finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Muscle finding\Myoclonus\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of all four limbs\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Neurological finding\Myoclonus\Congenital ichthyosis, microcephalus, tetraplegia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Paralytic syndrome of all four limbs\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Complete bilateral paralysis\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spastic syndrome\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Extrapyramidal disease\Athetosis\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of extremity\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of head\Disorder of brain\Extrapyramidal disease\Athetosis\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Movement disorder\Extrapyramidal disease\Athetosis\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Quadriplegia\Spastic tetraplegia\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome
\Disease\Developmental disorder\Developmental delay\Congenital ichthyosis, microcephalus, tetraplegia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 28-Feb 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4694784017 Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4694785016 Congenital ichthyosis, microcephalus, tetraplegia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4694786015 Congenital ichthyosis, microcephalus, quadriplegia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Disorder of skeletal AND/OR smooth muscle	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Myoclonus	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Spastic tetraplegia	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Athetosis	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	9
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	5
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Finding site	Skeletal and/or smooth muscle structure	true	Inferred relationship	Existential restriction modifier	6
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Finding site	Extrapyramidal system structure	true	Inferred relationship	Existential restriction modifier	7
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	8
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	2
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	2
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	3
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	4
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier	10
Congenital ichthyosis, microcephalus, tetraplegia syndrome	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier	10

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4694784017	Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4694785016	Congenital ichthyosis, microcephalus, tetraplegia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4694786015	Congenital ichthyosis, microcephalus, quadriplegia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module