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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
Infantile autism (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Borderline intellectual disability (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
This syndrome is characterized by severe growth retardation associated with immunodeficiency. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental language comprehension impairment (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Autosomal recessive isolated somatotropin deficiency Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Maroteaux-Lamy syndrome, mild form (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
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) True Pathological developmental process Inferred relationship Some 1
Idiopathic short stature (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Asperger's disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Precocious exfoliation of teeth due to idiopathic root resorption (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Developmental delay in fine motor function (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Precocious exfoliation of teeth due to root resorption following trauma (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Attention deficit hyperactivity disorder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental delay in social skills Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 8
Delayed exfoliation of single tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Delayed single tooth exfoliation associated with previous trauma (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Gross motor development delay (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Delayed generalized exfoliation of teeth unrelated to systemic disease Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Delayed generalised tooth eruption due to systemic disease Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Failure of exfoliation associated with lack of succedaneous tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Developmental language impairment Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Failure of tooth eruption Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Pituitary dwarfism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Generalized failure of tooth eruption associated with systemic disease Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Nonverbal learning disorder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Precocious female puberty Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Failure of tooth eruption associated with tooth impaction (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Delayed adrenarche Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Severe scapuloperoneal muscular dystrophy with cardiomyopathy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Persistent primary tooth (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Attention deficit hyperactivity disorder, combined type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Adult onset fluency disorder Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 7
Retardation of physical development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Disorder of tooth development (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Developmental receptive language disorder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Tryptophanuria with dwarfism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of trachea due to tracheal web (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
FOXG1 syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Bruck syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Word finding difficulty Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Pituitary dwarfism with normal somatotropin level AND low somatomedin Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
déficience intellectuelle associée à SYNGAP1 (synaptic Ras GTPase activating protein 1) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Premature puberty due to hypothyroidism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Chédiak-Higashi syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Child attention deficit disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete congenital duodenal obstruction Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Morbidly adherent placenta in which the chorionic villi invade into the myometrium. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Gigantism due to somatostatin deficiency Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital spondylolisthesis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Femoral hypoplasia - unusual facies syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hereditary elliptocytosis due to glycophorin C deficiency Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Erupted mesiodens Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Impacted mesiodens Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Impacted mesiodens Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Inverted mesiodens Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duplication of teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Altered passive eruption of teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Delayed generalised tooth eruption due to systemic disease Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Delayed generalized tooth eruption unrelated to systemic disease Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Partially impacted tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complicated impacted tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Delayed exfoliation of single tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Delayed single tooth exfoliation associated with previous trauma (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Delayed generalized exfoliation of teeth unrelated to systemic disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Failure of exfoliation associated with lack of succedaneous tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Failure of exfoliation associated with ectopic eruption of succedaneous tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Failure of tooth eruption Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal chorion Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Overeruption of tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supereruption of unopposed tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supereruption of tooth associated with malocclusion Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple lentigines syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Leprechaunism syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Leprechaunism syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Reactive attachment disorder of infancy OR early childhood, disinhibited type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Abnormal mature chorion Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Failure of tooth eruption associated with tooth impaction (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Failure of tooth eruption associated with tooth impaction (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Detached products of conception Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital hydronephrosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Nonsupernumerary impacted tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Talipes valgus of left foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Talipes valgus of right foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fibrous dysplasia of bone Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of left upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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