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169876006: Birth 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
263504010 Birth head circumference en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
551763018 Birth head circumference (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
263504010 Birth head circumference en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
263504010 Birth head circumference en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
551763018 Birth head circumference (observable entity) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
551763018 Birth head circumference (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
357341000195113 circonferenza cranica alla nascita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12931001000118 Kopfumfang bei Geburt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
357341000195113 circonferenza cranica alla nascita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12931001000118 Kopfumfang bei Geburt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Birth head circumference Is a Head circumference true Inferred relationship Existential restriction modifier (core metadata concept)
Birth head circumference Finding site Head structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Birth head circumference equal to or greater than 97th centile (finding) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital microcephaly (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Amish lethal microcephaly (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Achalasia microcephaly syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Aphalangy and syndactyly with microcephaly syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate, large ears, small head syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Epilepsy, microcephaly, skeletal dysplasia syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Goldberg Shprintzen megacolon syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 7
Filippi syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Hydromicrocephaly (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 8
Hall Riggs syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Jawad syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalic primordial dwarfism Alazami type Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalic primordial dwarfism Dauber type Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Lowry MacLean syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalic osteodysplastic primordial dwarfism types I and III Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalic primordial dwarfism Montreal type Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus cleft palate syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalic primordial dwarfism Toriello type Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus microcornea syndrome of Seemanova type (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 7
Microcephalus with brachydactyly and kyphoscoliosis syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, brain defect, spasticity, hypernatremia syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, complex motor and sensory axonal neuropathy syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephaly with deafness and intellectual disability syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalus, lymphoedema, chorioretinopathy syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly with simplified gyral pattern (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephaly, seizure, intellectual disability, heart disease syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly-capillary malformation syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Neu-Laxova syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Nijmegen breakage syndrome-like disorder Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculocerebrofacial syndrome Kaufman type Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 14 (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 7
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Seckel syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Radioulnar synostosis with microcephaly and scoliosis syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Pseudoprogeria syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe X-linked intellectual disability Gustavson type (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalic osteodysplastic primordial dwarfism type II (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 2
19p13.3 microduplication syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 3
NDE1-related microhydranencephaly Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebellar-facial-dental syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 8
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 9
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital pontocerebellar hypoplasia type 14 Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6
CIMDAG syndrome Interprets True Birth head circumference Inferred relationship Existential restriction modifier (core metadata concept) 6

This concept is not in any reference sets

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