1145402008: Congenital macrocephaly (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

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

\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)

\Disease\affection de la tête\Congenital anomaly of head\Congenital macrocephaly (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)
\Disease\trouble du développement\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:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital macrocephaly (disorder)	est un(e) (attribut)	Congenital anomaly of head	true	Inferred relationship	Some
Congenital macrocephaly (disorder)	morphologie associée (attribut)	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital macrocephaly (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital macrocephaly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital macrocephaly (disorder)	interprète (attribut)	Head circumference	true	Inferred relationship	Some	2
Congenital macrocephaly (disorder)	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	2
Congenital macrocephaly (disorder)	est un(e) (attribut)	Macrocephaly (finding)	true	Inferred relationship	Some
Congenital macrocephaly (disorder)	localisation d'une constatation (attribut)	structure de la tête	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bannayan syndrome	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly and developmental delay syndrome	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly, short stature, paraplegia syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Malan overgrowth syndrome	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Heide syndrome	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
X-linked intellectual disability Atkin type (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)	est un(e) (attribut)	True	Congenital macrocephaly (disorder)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)