703369003: Microcephaly-capillary malformation syndrome (disorder)

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

\Head finding (finding)\Finding of head circumference\Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation.\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Microcephaly-capillary malformation syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Microcephaly-capillary malformation syndrome

\Body measurement finding\Finding of head circumference\Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation.\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Microcephaly-capillary malformation syndrome

\General finding of soft tissue\Blood vessel finding\Capillary finding\Disorder of capillaries (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Microcephaly-capillary malformation syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Cardiovascular finding\Blood vessel finding\Capillary finding\Disorder of capillaries (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephaly-capillary malformation syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly-capillary malformation syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly-capillary malformation syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Microcephaly-capillary malformation syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Microcephaly-capillary malformation syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Microcephaly-capillary malformation syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Microcephaly-capillary malformation syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of capillaries (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly-capillary malformation syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.\Microcephaly-capillary malformation syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Microcephaly-capillary malformation syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Microcephaly-capillary malformation syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly-capillary malformation syndrome	Is a	Capillary malformation	true	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	microcéphalie	false	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Microcephaly-capillary malformation syndrome	Finding site	Entire brain	false	Inferred relationship	Some	2
Microcephaly-capillary malformation syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Microcephaly-capillary malformation syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Microcephaly-capillary malformation syndrome	Finding site	Structure of capillary blood vessel	false	Inferred relationship	Some	3
Microcephaly-capillary malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephaly-capillary malformation syndrome	Finding site	Structure of capillary blood vessel	true	Inferred relationship	Some	2
Microcephaly-capillary malformation syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microcephaly-capillary malformation syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephaly-capillary malformation syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephaly-capillary malformation syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Microcephaly-capillary malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephaly-capillary malformation syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephaly-capillary malformation syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
Microcephaly-capillary malformation syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Microcephaly-capillary malformation syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Microcephaly-capillary malformation syndrome	Is a	A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.	true	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

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Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3008384012	Microcephaly-capillary malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008488014	Microcephaly-capillary malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
891651000172110	syndrome MIC-CAP (microcephaly, capillary malformation)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
999311000172113	syndrome de microcéphalie-malformation capillaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433781001000118	Mikrozephalie-kapilläre Fehlbildung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module