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

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)

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

\Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Athetosis (disorder)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Athetosis (disorder)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)

\Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)

\Finding of limb structure (finding)\Disorder of limb\Spastic tetraplegia (disorder)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)

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

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

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

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

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

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

\Muscle finding (finding)\Disorder of muscle\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
\Muscle finding (finding)\Myoclonus (finding)\Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

4694785016 Congenital ichthyosis, microcephalus, tetraplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4694786015 Congenital ichthyosis, microcephalus, quadriplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5399692017 A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399693010 A rare autosomal ichthyosis syndrome with prominent neurologic signs characterised by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

4694785016 Congenital ichthyosis, microcephalus, tetraplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4694786015 Congenital ichthyosis, microcephalus, quadriplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4694787012 A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399692017 A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399693010 A rare autosomal ichthyosis syndrome with prominent neurologic signs characterised by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3392181001000113 Ichthyose, kongenitale - Mikrozephalie - Tetraplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3392181001000113 Ichthyose, kongenitale - Mikrozephalie - Tetraplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4694784017	Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694785016	Congenital ichthyosis, microcephalus, tetraplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694786015	Congenital ichthyosis, microcephalus, quadriplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399692017	A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399693010	A rare autosomal ichthyosis syndrome with prominent neurologic signs characterised by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4694784017	Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694785016	Congenital ichthyosis, microcephalus, tetraplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694786015	Congenital ichthyosis, microcephalus, quadriplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4694787012	A rare autosomal ichthyosis syndrome with prominent neurologic signs and the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399692017	A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399693010	A rare autosomal ichthyosis syndrome with prominent neurologic signs characterised by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3392181001000113	Ichthyose, kongenitale - Mikrozephalie - Tetraplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392181001000113	Ichthyose, kongenitale - Mikrozephalie - Tetraplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module