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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
Congenital abnormal retraction of bilateral eyelids (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal retraction of bilateral eyelids (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral congenital corneal opacity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital corneal opacity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital malalignment of great toenail (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital refluxing megaureter Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital lobar emphysema of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital lobar emphysema of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital lobar emphysema of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital lobar emphysema of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital macrophthalmos of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital macrophthalmos of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Common atrioventricular junction with spontaneous fibrous closure of atrioventricular septal defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Peripheral arteriovenous malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Rotation of tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Relative generalised microdontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital absence of seminal vesicle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Segmental odontomaxillary dysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Distal muscular dystrophy, Miyoshi type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infantilism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Precocious female puberty Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Precocious puberty with adrenal hyperplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Precocious puberty with adrenocortical hyperfunction (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Heterosexual precocious puberty Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isosexual precocious puberty Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Precocious pubarche Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Precocious puberty (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Chromosome 2q37 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Childhood disinhibited attachment disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Early childhood developmental disability (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autistic disorder of childhood onset 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) 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 1
Oppositional defiant disorder co-occurrent with chronic irritability-anger (disorder) 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) True Pathological developmental process Inferred relationship Some 1
Pitt-Hopkins syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Neuronal ceroid lipofuscinosis 8 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anophthalmos of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anophthalmos of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Delayed growth of secondary sexual hair Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Rett syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal hydronephrosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of bilateral lungs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of bilateral lungs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 9
Camptodactyly of bilateral toes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Camptodactyly of bilateral fingers Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Camptodactyly of bilateral fingers Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Camptodactyly of bilateral toes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of epiglottis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of all bilateral toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of all bilateral toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital structural abnormality of left eyelid (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital structural abnormality of right eyelid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital structural abnormality of bilateral corneas Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital structural abnormality of bilateral corneas Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anomaly of bilateral retinas (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bilateral retinas (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital combined form cataract of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital combined form cataract of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hamartoma of bilateral irises (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital hamartoma of bilateral irises (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital aniridia of right eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital aniridia of left eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of left pupil Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bilateral pupils (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bilateral pupils (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anomaly of right pupil Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of right sclera (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of left sclera (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bilateral sclerae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of bilateral sclerae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital ocular melanocytosis of left eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ocular melanocytosis of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ocular melanocytosis of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital opacity of cornea of left eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ocular melanocytosis of right eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital opacity of cornea of right eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital lumbar spondylolisthesis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital nuclear cataract of left eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital nuclear cataract of right eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital zonular cataract of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital zonular cataract of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hypertrophy of retinal pigment epithelium of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypertrophy of retinal pigment epithelium of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hypertrophy of retinal pigment epithelium of left eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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