19410003: Macrocephaly (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

32699016 Macrocephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

32700015 Macrocephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

747501016 Macrocephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1989551000005117 makrocefali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
makrocefali	Is a	Congenital anomaly of head	false	Inferred relationship	Some
makrocefali	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
makrocefali	Finding site	Head structure	false	Inferred relationship	Some	1
makrocefali	Associated morphology	kongenit hypertrofi	false	Inferred relationship	Some	1
makrocefali	Occurrence	Congenital	false	Inferred relationship	Some
makrocefali	Associated morphology	kongenit hypertrofi	false	Inferred relationship	Some	1
makrocefali	Finding site	Head structure	false	Inferred relationship	Some	1
makrocefali	Associated morphology	kongenit forstørrelse	false	Inferred relationship	Some	2
makrocefali	Finding site	Entire head	false	Inferred relationship	Some	2
makrocefali	Occurrence	Congenital	false	Inferred relationship	Some	1
makrocefali	Associated morphology	kongenit forstørrelse	false	Inferred relationship	Some	1
makrocefali	Finding site	Entire head	false	Inferred relationship	Some	1
makrocefali	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
makrocefali	Associated morphology	Enlargement (morphologic abnormality)	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bannayan syndrome	Is a	False	makrocefali	Inferred relationship	Some
Fetal macrocephaly (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Relative macrocephaly	Is a	False	makrocefali	Inferred relationship	Some
Family history of macrocephaly	Associated finding	False	makrocefali	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Heide syndrome	Is a	False	makrocefali	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	Is a	False	makrocefali	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Macrocephaly, short stature, paraplegia syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Macrocephaly and developmental delay syndrome	Is a	False	makrocefali	Inferred relationship	Some
Malan overgrowth syndrome	Is a	False	makrocefali	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	False	makrocefali	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)