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308490002: Pathological developmental process (qualifier value)

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
451847013 Pathological developmental process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name 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
Pathological developmental process Is a Pathological process true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Encephalocraniocutaneous lipomatosis (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital hydrocele of canal of Nuck (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital skin contracture Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Condition where foot exhibits an arch when non-weight bearing but shows collapse of the arch in stance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Geroderma osteodysplastica Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Hyperphosphatasemia tarda Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ear, patella, short stature syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with nail defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Rachitic dwarf Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Maroteaux-Lamy syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Hyperkinesis with developmental delay Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Hyperkinetic conduct disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Restricted expressive language development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Severe expressive language delay Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mild intellectual disability (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Moderate nutritional stunting in infancy childhood and adolescence Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Late tooth eruption Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Severe nutritional stunting in infancy childhood and adolescence Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Disorder of speech and language development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Specific reading disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pervasive developmental disorder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental disorder of motor function Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
On examination - neurodevelopmental disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Developmental dyslexia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Developmental semantic impairment (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Premature tooth eruption Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Disorder of fluency Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
High-functioning autism (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Developmental dysfluency Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Normal non-fluency Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital auditory imperception Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Nutritional stunting in infancy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Nutritional stunting in childhood (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Teething syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Mixed disorder of psychological development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neuronal ceroid lipofuscinosis 8 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Nutritional stunting in adolescence (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental aphasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Developmental language disorder co-occurrent with language impairment (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Precocious puberty with adrenocortical hyperfunction (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Intellectual disability Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Delayed puberty (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Developmental coordination disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neurogenic stammering Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Short stature associated with bone marrow transplant (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Secondary neurodevelopmental disorder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Profound intellectual disability (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Growth retardation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Moderate receptive language delay Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
à l'examen : retard du langage Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Severe achondrolasia with developmental delay and acanthosis nigricans Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Majeed syndrome is a rare genetic multisystemic disorder characterised by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Precocious puberty with adrenal hyperplasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Attention deficit hyperactivity disorder, inattentive presentation (restrictive) (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Receptive language disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Spondyloenchondromatosis with basal ganglia calcification (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pitt-Hopkins syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Stickler syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Dysfluency Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Erupted mesiodens Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Acquired epileptic aphasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Pediatric failure to thrive (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Specific number difficulty Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acquired stammering Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
A rare X-linked intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Short stature co-occurrent and due to endocrine disorder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Developmental hereditary disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pathological demand avoidance Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Gigantism due to somatostatin deficiency Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Primordial dwarfism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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