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9740002: Macroencephaly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
17037019 Macroencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
17038012 Megalencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
841966013 Macroencephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
17037019 Macroencephaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
17037019 Macroencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
17038012 Megalencephaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
17038012 Megalencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
512794015 Macrocephaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
841966013 Macroencephaly (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
841966013 Macroencephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
950791000195113 macroencefalia it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429741001000113 Megalenzephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390983014 macrocéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
326601000172111 mégalencéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
551611000172116 encéphalomégalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
645661000172112 macroencéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390983014 macrocéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
326601000172111 mégalencéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
551611000172116 encéphalomégalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
645661000172112 macroencéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950791000195113 macroencefalia it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429741001000113 Megalenzephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Macroencephaly (disorder) Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Macroencephaly (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Macroencephaly (disorder) Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Associated morphology hypertrophie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Finding site Head structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Macroencephaly (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Associated morphology hypertrophie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Macroencephaly (disorder) Finding site Entire brain false Inferred relationship Existential restriction modifier (core metadata concept) 2
Macroencephaly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Macroencephaly (disorder) Finding site Entire brain false Inferred relationship Existential restriction modifier (core metadata concept) 3
Macroencephaly (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Macroencephaly (disorder) Finding site Entire brain false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Macroencephaly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Macroencephaly (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Macroencephaly (disorder) 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
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial megalencephaly Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sporadic megalencephaly Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hemimegalencephaly (disorder) Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly-capillary malformation syndrome Is a False Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephalic leucoencephalopathy with subcortical cysts Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral megalencephaly (disorder) Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Macroencephaly (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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