FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

363812007: Head circumference (observable entity)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
486936013 Head circumference en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
769991018 Head circumference (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
486936013 Head circumference en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
486936013 Head circumference en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
769991018 Head circumference (observable entity) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
769991018 Head circumference (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
361661000195115 CC - circonferenza cranica it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
361671000195114 circonferenza cranica it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12541001000115 Kopfumfang de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12551001000118 KU - Kopfumfang de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6926011000241116 périmètre crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6926031000241113 circonférence de la tête fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6926011000241116 périmètre crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6926031000241113 circonférence de la tête fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
361661000195115 CC - circonferenza cranica it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
361671000195114 circonferenza cranica it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12541001000115 Kopfumfang de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12551001000118 KU - Kopfumfang de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Head circumference Is a Head circumference measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Birth head circumference Is a True Head circumference Inferred relationship Existential restriction modifier (core metadata concept)
Head circumference centile Is a False Head circumference Inferred relationship Existential restriction modifier (core metadata concept)
Fetal microcephaly (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Sporadic fetal brain disruption sequence Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Macrocephaly (finding) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital macrocephaly Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Bannayan syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare multiple congenital anomalies/dysmorphic syndrome characterised 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. Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 8
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Macrocephaly and developmental delay syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Fryns macrocephaly Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
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. Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Macrocephaly, intellectual disability, autism syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Malan overgrowth syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Overgrowth, macrocephaly, facial dysmorphism syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised 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. Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability Atkin type (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly (finding) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Secondary microcephaly Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Deficiency of leukotriene C4 synthase Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe neonatal onset encephalopathy with microcephaly Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Head circumference for age z-score (observable entity) Is a True Head circumference Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Child head circumference centile Is a True Head circumference Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual developmental disorder Christianson type (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Seizures, scoliosis, macrocephaly syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Sanjad Sakati syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive cerebello-cerebral atrophy (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
PYCR2-related microcephaly, progressive leucoencephalopathy Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Ubiquitin specific peptidase 18 deficiency (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 7
Menke Hennekam syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Head circumference of fetus Is a True Head circumference Inferred relationship Existential restriction modifier (core metadata concept)
Head circumference of biological mother Is a True Head circumference Inferred relationship Existential restriction modifier (core metadata concept)
Head circumference of biological father Is a True Head circumference Inferred relationship Existential restriction modifier (core metadata concept)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Clark Baraitser syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital pontocerebellar hypoplasia type 11 (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital pontocerebellar hypoplasia type 12 Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 8
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 10
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder) Interprets True Head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

Back to Start