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1145402008: Congenital macrocephaly (disorder)

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

\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)

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

\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)

\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital macrocephaly (disorder)	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital macrocephaly (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital macrocephaly (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital macrocephaly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital macrocephaly (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	2
Congenital macrocephaly (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Congenital macrocephaly (disorder)	Is a	Macrocephaly (finding)	true	Inferred relationship	Some
Congenital macrocephaly (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bannayan syndrome	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly and developmental delay syndrome	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly, short stature, paraplegia syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Malan overgrowth syndrome	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Heide syndrome	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	True	Congenital macrocephaly (disorder)	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

Belgian subset for neonatology in patient health records

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Id	Description	Lang	Type	Status	Case?	Module
4545798015	Congenital macrocephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4545799011	Congenital macrocephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10638591000172118	macrocéphalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5074361000172112	congenitale macrocefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)