700063005: Megalencephaly capillary malformation (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation

\General finding of soft tissue\Blood vessel finding\Capillary finding\Disease of capillaries\Capillary malformation\Megalencephaly capillary malformation
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disease of capillaries\Capillary malformation\Megalencephaly capillary malformation
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disease of capillaries\Capillary malformation\Megalencephaly capillary malformation

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation

\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Cardiovascular finding\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Megalencephaly capillary malformation
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disease of capillaries\Capillary malformation\Megalencephaly capillary malformation
\Cardiovascular finding\Blood vessel finding\Capillary finding\Disease of capillaries\Capillary malformation\Megalencephaly capillary malformation
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Disease of capillaries\Capillary malformation\Megalencephaly capillary malformation

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Megalencephaly capillary malformation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephaly capillary malformation
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Megalencephaly capillary malformation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Megalencephaly capillary malformation
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Cardiovascular system hereditary disorder\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disorder of cardiovascular system\Cardiovascular system hereditary disorder\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Disease of capillaries\Capillary malformation\Megalencephaly capillary malformation
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disease of capillaries\Capillary malformation\Megalencephaly capillary malformation
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Megalencephaly capillary malformation
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly capillary malformation
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly capillary malformation
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Capillary malformation\Megalencephaly capillary malformation

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megalencephaly capillary malformation	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation	Is a	Macroencephaly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation	Is a	Capillary malformation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephaly capillary malformation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephaly capillary malformation	Finding site	Entire brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephaly capillary malformation	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephaly capillary malformation	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megalencephaly capillary malformation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megalencephaly capillary malformation	Finding site	Structure of capillary blood vessel	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megalencephaly capillary malformation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Megalencephaly capillary malformation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megalencephaly capillary malformation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megalencephaly capillary malformation	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megalencephaly capillary malformation	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Megalencephaly capillary malformation	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Megalencephaly capillary malformation	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
2988855015	M-CM (Macrocephaly-capillary malformation)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2988873017	Macrocephaly-capillary malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988918016	Macrocephaly-cutis marmorata telangiectatica congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3973210011	Megalencephaly, capillary malformation, polymicrogyria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4012681017	Megalencephaly capillary malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4012682012	Megalencephaly capillary malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4012683019	MCAP - megalencephaly capillary malformation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2988855015	M-CM (Macrocephaly-capillary malformation)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2988861017	Macrocephaly-capillary malformation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2988861017	Macrocephaly-capillary malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988873017	Macrocephaly-capillary malformation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2988873017	Macrocephaly-capillary malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2988918016	Macrocephaly-cutis marmorata telangiectatica congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2988918016	Macrocephaly-cutis marmorata telangiectatica congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3973210011	Megalencephaly, capillary malformation, polymicrogyria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4012681017	Megalencephaly capillary malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4012682012	Megalencephaly capillary malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4012683019	MCAP - megalencephaly capillary malformation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3395271001000114	Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1013611000241119	macrocéphalie, malformation capillaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1013611000241119	macrocéphalie, malformation capillaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395271001000114	Megalenzephalie-Kapillarfehlbildungen-Polymikrogyrie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module