41086002: Congenital smallness (morphologic abnormality)

Status: retired, 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

68540011 Congenital smallness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

777834016 Congenital smallness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital smallness	Is a	Congenital growth alteration	false	Inferred relationship	Some
Congenital smallness	Is a	Growth alteration	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Reconstruction of microtia with flap (procedure)	Direct morphology	False	Congenital smallness	Inferred relationship	Some	1
Microphthalmos of right eye	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Microphthalmos of left eye	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Reconstruction of microtia with graft (procedure)	Direct morphology	False	Congenital smallness	Inferred relationship	Some	2
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	3
A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare, genetic, neurometabolic disorder characterised by 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.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	4
Reduction anomaly of hypothalamus	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Megacystis, microcolon, hypoperistalsis syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
Seckel syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
Diastrophic dysplasia	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
Thrombocytopathy, asplenia and miosis (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	5
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	4
Microcornea of bilateral eyes (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Microcornea of bilateral eyes (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
Bilateral microphthalmos	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Bilateral microphthalmos	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Bilateral frontal polymicrogyria	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Bilateral generalized polymicrogyria (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Bilateral parasagittal parieto-occipital polymicrogyria	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
Bilateral parasagittal parieto-occipital polymicrogyria	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
Microcephaly with simplified gyral pattern	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Microphthalmos due to branchio-oculo-facial syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Microlissencephaly	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Microphthalmos due to Delleman syndrome (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Micromelic dwarfism Fryn type	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Congenital microencephaly (disorder)	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder, and impaired balance. More variable manifestations are hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern, and seizures, among others.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	3
A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed and may be severe.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized 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 behavior, and café-au-lait spots, among others.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
Reconstruction of microtia with free flap and microvascular anastomosis	Direct morphology	False	Congenital smallness	Inferred relationship	Some	3
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
A rare bone disease and a form of microcephalic primordial dwarfism characterised by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	3
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	3
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	4
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	2
NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	4
A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A rare genetic eye disease characterized 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	False	Congenital smallness	Inferred relationship	Some	2
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	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	False	Congenital smallness	Inferred relationship	Some	1
A rare primary bone dysplasia characterized 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	False	Congenital smallness	Inferred relationship	Some	4
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1
A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported.	Associated morphology	False	Congenital smallness	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
68540011	Congenital smallness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
777834016	Congenital smallness (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core