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

4091000172114 macrocéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Bannayan syndrome	Is a	False	macrocéphalie	Inferred relationship	Some
Fetal macrocephaly (disorder)	Is a	False	macrocéphalie	Inferred relationship	Some
Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered.	Is a	False	macrocéphalie	Inferred relationship	Some
Family history of macrocephaly	Associated finding	False	macrocéphalie	Inferred relationship	Some	1
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	Is a	False	macrocéphalie	Inferred relationship	Some
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.	Is a	False	macrocéphalie	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.	Is a	False	macrocéphalie	Inferred relationship	Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder)	Is a	False	macrocéphalie	Inferred relationship	Some
An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.	Is a	False	macrocéphalie	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Is a	False	macrocéphalie	Inferred relationship	Some
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism.	Is a	False	macrocéphalie	Inferred relationship	Some
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	Is a	False	macrocéphalie	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Is a	False	macrocéphalie	Inferred relationship	Some
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.	Is a	False	macrocéphalie	Inferred relationship	Some
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.	Is a	False	macrocéphalie	Inferred relationship	Some
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	Is a	False	macrocéphalie	Inferred relationship	Some
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	Is a	False	macrocéphalie	Inferred relationship	Some
A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.	Is a	False	macrocéphalie	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)