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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
Bilateral primary congenital glaucoma 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) True Pathological developmental process Inferred relationship Some 2
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Developmental anomaly of periodontal tissue Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterised by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal form of articular disk of temporomandibular joint Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Peripheral venous malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal form of temporomandibular joint fossa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile osteochondrosis of the secondary patellar center Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile osteochondrosis of the foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hitch-hiker thumb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile osteochondrosis of lower extremity, excluding foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile osteochondrosis of lower extremity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Trochlear notch incongruity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Malformation of tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Primary congenital glaucoma (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile osteochondrosis of right tarsal navicular (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Juvenile osteochondrosis of left tarsal navicular Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Juvenile osteochondrosis of left second metatarsal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Juvenile osteochondrosis of left tarsus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Juvenile osteochondrosis of right tarsus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Juvenile osteochondrosis of bilateral tarsals (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Defect of vertebral segmentation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile osteochondrosis of tibial tubercle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pigmented xerodermoid Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum, group D Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum, variant form Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum, group E Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum, group G Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum, group F Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum, group A Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum, group C Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Non-neurologic xeroderma pigmentosum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Xeroderma pigmentosum, group B Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Anterior open bite Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Vertical overbite Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Anomaly of dental arch (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Posterior open bite Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Anterior crossbite Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Dysmorphic sialidosis, congenital form Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Midline deviation of dental arch Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Class II buccal segment relationship - half unit Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Class III buccal segment relationship - half unit Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Anterior crossbite involving single tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Asymmetric maxillary arch Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Asymmetric mandibular arch form Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Right posterior open bite Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Left posterior open bite Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Anomaly of interarch distance Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Juvenile osteochondrosis of lower ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile osteochondrosis of primary patellar center Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juvenile osteochondrosis of head of metacarpals Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Juvenile osteochondrosis of hand Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Juvenile osteochondrosis of upper extremity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hydronephrosis due to ureteral obstruction (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hydronephrosis due to urinary bladder obstruction Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cryptogenic sexual precocity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital retinoschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital retinoschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hydronephrosis due to ureteral orifice obstruction Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
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. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Congenital microencephaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Supernumerary permanent maxillary right third molar tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple supernumerary teeth related to systemic condition Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Conical supernumerary tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary deciduous tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A general position for a supernumerary tooth located somewhere other than the midline of the dental arch. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A supernumerary tooth resembling a molar tooth especially in shape. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microcephaly with simplified gyral pattern Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A type of supernumerary tooth which has the morphology of a normal fully formed tooth. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infection of urachal sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Infection of urachal remnant (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Urachal sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Infection of urachal sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Supernumerary permanent maxillary tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary left central incisor tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary right central incisor tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary right second premolar tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary right lateral incisor tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary left third molar tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary right first molar tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary right canine tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary left canine tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary left second molar tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary right second molar tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary left first premolar tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary left lateral incisor tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary left first molar tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary permanent maxillary right first premolar tooth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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