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1303834006: Abnormal smallness (morphologic abnormality)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5308066018 Abnormal smallness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5308067010 Abnormal smallness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5308066018 Abnormal smallness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5308067010 Abnormal smallness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal smallness (morphologic abnormality) Is a Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly, seizure, intellectual disability, heart disease syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
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.). Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic primordial dwarfism due to ZNF335 deficiency Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib polydactyly syndrome Saldino Noonan type Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Coxoauricular syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudoprogeria syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus microcornea syndrome of Seemanova type (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic primordial dwarfism Toriello type Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Unilateral polymicrogyria Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea with corectopia and macular hypoplasia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Reconstruction of microtia with free flap (procedure) Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalus, lymphoedema, chorioretinopathy syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmic socket (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Thrombocytopathy, asplenia and miosis (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital microgastria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Occipital pachygyria and polymicrogyria Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Microphthalmos of right eye Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmos of left eye Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Reconstruction of microtia with flap Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Reconstruction of microtia with microvascular anastomosis (procedure) Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Reconstruction of microtia with graft (procedure) Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmos Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral frontal polymicrogyria Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral generalized polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral parasagittal parieto-occipital polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral parasagittal parieto-occipital polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral frontoparietal polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral frontoparietal polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmos due to Fryns syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmos due to Delleman syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelic dwarfism Fryn type Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly with simplified gyral pattern (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microphthalmos due to branchio-oculo-facial syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microlissencephaly Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic osteodysplastic primordial dwarfism type II (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebellar-facial-dental syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
NDE1-related microhydranencephaly Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital microcephaly (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital microencephaly Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
19p13.3 microduplication syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Isolated microspherophakia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic eye disease characterised by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib polydactyly syndrome type 5 Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pontocerebellar hypoplasia type 14 Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
CIMDAG syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Small forehead Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Small epiphysis of middle phalanx of finger (finding) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Small epiphysis of phalanx of fourth toe Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Small epiphysis of distal phalanx of hand Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Small epiphysis of phalanx of fifth toe (finding) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Small epiphysis of metacarpal Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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