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1145402008: Congenital macrocephaly (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly

\Disorder of head\Congenital anomaly of head\Congenital macrocephaly

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly

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

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

Descriptions:

Id Description Lang Type Status Case? Module

4545798015 Congenital macrocephaly (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4545799011 Congenital macrocephaly en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital macrocephaly	Is a	Congenital anomaly of head	true	Inferred relationship	Existential restriction modifier
Congenital macrocephaly	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	1
Congenital macrocephaly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital macrocephaly	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital macrocephaly	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	2
Congenital macrocephaly	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	2
Congenital macrocephaly	Is a	Macrocephaly	true	Inferred relationship	Existential restriction modifier
Congenital macrocephaly	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4545798015	Congenital macrocephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4545799011	Congenital macrocephaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module