406208005: Adaptation behavior (observable entity)

SNOMED CT Concept\Observable entity (observable entity)\Clinical history/examination observable (observable entity)\Mental state, behavior / psychosocial function observable\Behavior observable\Adaptation behavior (observable entity)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adaptation behavior (observable entity)	Is a	Health-related behaviour	false	Inferred relationship	Some
Adaptation behavior (observable entity)	Is a	Behavior observable	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adaptive behavior: newborn (observable entity)	Is a	True	Adaptation behavior (observable entity)	Inferred relationship	Some
Child adaptive behavior: hospitalization (observable entity)	Is a	True	Adaptation behavior (observable entity)	Inferred relationship	Some
Psychosocial adaptive behavior: life change (observable entity)	Is a	True	Adaptation behavior (observable entity)	Inferred relationship	Some
Adaptive behavior: physical disability (observable entity)	Is a	True	Adaptation behavior (observable entity)	Inferred relationship	Some
Caregiver adaptative behavior: patient institutionalization (observable entity)	Is a	True	Adaptation behavior (observable entity)	Inferred relationship	Some
Acceptance behavior: health status (observable entity)	Is a	True	Adaptation behavior (observable entity)	Inferred relationship	Some
Coping behavior (observable entity)	Is a	True	Adaptation behavior (observable entity)	Inferred relationship	Some
Life closure behavior (observable entity)	Is a	True	Adaptation behavior (observable entity)	Inferred relationship	Some
Improvement in post-trauma response	Interprets	False	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Sustained emotional and behavioral responses to a traumatic event that may interfere with adaptive functioning.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Able to modify behavior and lifestyle to support a change in circumstance	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	1
Able to modify behavior and lifestyle to support health improvement (finding)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	1
Intellectual disability	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Angelman syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Borderline intellectual disability (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Lowe syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Rett syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Moderate intellectual disability (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Mild intellectual disability (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Seckel syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	8
Borjeson-Forssman-Lehmann syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Profound intellectual disability (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Hyperphosphatasaemia with intellectual disability	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Bardet-Biedl syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Tetrasomy 12p syndrome (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Coffin-Siris syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Fragile X syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	7
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	7
Laurence-Moon syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
X-linked intellectual disability with marfanoid habitus (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Severe intellectual disability (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Savant syndrome (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Ohdo syndrome, Maat-Kievit-Brunner type	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Myhre syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Renpenning syndrome (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Allan-Herndon-Dudley syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	8
Pitt-Hopkins syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Christianson syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
PPM-X syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Partington syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Snyder-Robinson syndrome	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis 8	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Mowat-Wilson syndrome (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	7
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	8
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	7
A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	7
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	7
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Intellectual disability due to nutritional deficiency (disorder)	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome but differs by the presence of intellectual disability in all affected individuals.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	6
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4
Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	3
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	5
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed.	Interprets	True	Adaptation behavior (observable entity)	Inferred relationship	Some	4

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Id	Description	Lang	Type	Status	Case?	Module
2150038015	Adaptation behavior (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2154071011	Adaptation behaviour	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2155094018	Adaptation behavior	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2161386010	Adaptive behaviour	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2161528014	Adaptive behavior	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core