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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
Developmental speech fluency disorder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hyperkinetic syndrome with developmental delay Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Two atrioventricular valves in double inlet ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Developmental speech disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intellectual disability due to nutritional deficiency (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Developmental language disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Dyspraxia of velopharynx Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Developmental language disorder and impairment of receptive and expressive language Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Delayed growth of secondary sexual hair Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Early childhood developmental disability (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Velar dyspraxia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Developmental language disorder and impairment of expressive language Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Disorder of stature Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Tongue tip dyspraxia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isosexual precocious puberty Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Hypersomatotropic gigantism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Right ventricular fibromuscular infundibular stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Short stature disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
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. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Disorders of attention and motor control Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Growth hormone receptor absent Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Growth hormone receptor abnormality Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Deficits in attention motor control and perception Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A tooth which erupts after birth in the neonatal period. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracic hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
troubles du développement et de l'éruption dentaires Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
maladie cœliaque congénitale Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Autistic spectrum disorder with isolated skills (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arthrogryposis caused by teratogen (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
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. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Disturbance of tooth formation Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Root stunting (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic pituitary disease characterized by infantile-onset, rapid and excessive acceleration of linear growth and body size due to mixed growth hormone (GH)- and prolactin-secreting adenomas and/or pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Laron-type isolated somatotropin defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypothyroid dwarfism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Disturbance of tooth eruption or exfoliation Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital spastic foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Submerging tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Early tooth exfoliation Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Expressive language disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital stenosis of trachea due to complete rings (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Expressive language delay Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
déficience intellectuelle liée à l'X type Brooks Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Receptive language delay Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Short stature due to radiation therapy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Attention deficit hyperactivity disorder, predominantly inattentive type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infantilism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Delayed pre-verbal development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Nutritional stunting Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Restricted language development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Active but odd autism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked asexual dwarfism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Restricted receptive language development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Developmental syntactic impairment Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Osteochondrodysplasia with osteopetrosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cognitive developmental delay (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital flexion contracture of hip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pervasive developmental disorder of residual state Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Developmental reading disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mixed developmental disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Savant syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mild expressive language delay Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Speech and language dyspraxias Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Pseudovaginal perineoscrotal hypospadias Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Developmental expressive language disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Childhood disintegrative disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental mental disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Eunuchoid gigantism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
X-linked intellectual disability Turner type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental dislocation of ankle and/or foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Failure to thrive in neonate (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Impacted mesiodens Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Autosomal recessive asexual dwarfism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aberrant retro-esophageal subclavian artery causing dysphagia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Short stature of childhood (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Arrested development following protein-calorie malnutrition Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Fluency disorder as sequela of cerebrovascular disease Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3

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