FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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 pulmonary airway malformation type 4 originates in the acinar structures of the lung. It consists of peripheral thin-walled cysts, typically affecting a single lobe. There is a strong association with type 1 pleuropulmonary blastoma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital prolapse of mitral valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pulmonary airway malformation type 2 originates in the bronchiolar regions and is the second most frequent type, comprising 15-25% of cases. It may be associated with other types of renal or cardiac anomalies. Usually, it presents as multiple small cysts less than 2cm in diameter. The prognosis is good with no malignant potential. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pulmonary airway malformation type 3 originates in the bronchiolar regions and may involve an entire lobe, compressing other lobes. It comprises 10% of all cases and the lesions may be solid not cystic and are less than 5mm in diameter. The prognosis is good with no malignant potential; however, there is typically an absence of pulmonary arteries within the lesion. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pulmonary airway malformation type 1 is the commonest type, comprising about 70% of all cases. The cysts in this type are usually located within a single lobe and lined with columnar epithelium. There are often 1 or 2 large cysts up to 10cm in size which may be surrounded by smaller cysts. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pulmonary airway malformation type 0 originates in the trachea or bronchi with acinar dysgenesis, cartilage, smooth muscles, and glands separated by mesenchyme. It is fatal after birth. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pit of bilateral optic discs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pit of bilateral optic discs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital bowing of ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital bronchocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of patella (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of bilateral breasts (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of bilateral breasts (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital abnormality of truncal valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of bilateral forearms and hands (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of bilateral forearms and hands (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of bilateral forearms and hands (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital absence of bilateral forearms and hands (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Bilateral congenital absence of both lower leg and foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital absence of both lower leg and foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral congenital absence of both lower leg and foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bilateral congenital absence of both lower leg and foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Bilateral complete phocomelia of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral complete phocomelia of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital diverticulum of gallbladder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral complete phocomelia of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral complete phocomelia of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral complete phocomelia of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Complete cryptophthalmos (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete congenital antral web Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dislocation of bilateral glenohumeral joints (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dislocation of bilateral glenohumeral joints (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital dislocation of joint (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital patella dislocation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital patella dislocation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital dislocation of bilateral elbows (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dislocation of bilateral elbows (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital dacryocele of bilateral lacrimal sacs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dacryocele of bilateral lacrimal sacs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital vitreous cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital clinodactyly of bilateral fingers (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital clinodactyly of bilateral fingers (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital coloboma of bilateral eyelids Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital coloboma of bilateral eyelids Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral cryptophthalmos Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral cryptophthalmos Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral syndactyly of fingers with fusion of bones Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral syndactyly of fingers with fusion of bones Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cervicothoracic spina bifida aperta with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervicothoracic spina bifida aperta with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cervicothoracic spina bifida aperta with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cervicothoracic spina bifida aperta with hydrocephalus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Cervicothoracic spina bifida aperta with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Cervicothoracic spina bifida aperta with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Secondary congenital hyperplasia of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Secondary congenital hyperplasia of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Proximal symphalangism of bilateral fingers (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Proximal symphalangism of bilateral fingers (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Primary congenital hypoplasia of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Primary congenital hypoplasia of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Primary congenital hyperplasia of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Primary congenital hyperplasia of bilateral lungs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral preaxial polydactyly of toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral preaxial polydactyly of toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complete agenesis of vermis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly and neurological developmental delay. Type 3 Cockayne syndrome, is the mildest type. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 1 Cockayne syndrome, also 'classic' or 'moderate' usually presents in early childhood. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 2 Cockayne syndrome, also known as 'severe' or 'early onset' usually presents in at or soon after birth. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Chondrodysplasia punctata due to maternal autoimmune disease (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervicothoracic spina bifida aperta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervicothoracic spina bifida aperta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cervicothoracic spina bifida aperta Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Cervicothoracic spina bifida aperta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Cervicothoracic spina bifida aperta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Long axis of fetal heart deviated to left (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Long axis of fetal heart deviated to right (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Failure of growth of fetal right cardiac ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Failure of growth of fetal left cardiac ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital torsion of left ovary (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital torsion of right ovary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of left calcaneus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fenestration of basilar artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of right calcaneus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital duplication of anterior communicating artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Simple syndactyly of fingers - second to fourth web Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Monostotic fibrous dysplasia of left femur (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Monostotic fibrous dysplasia of right femur Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Pendred's syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomaly of fetal ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Radial polydactyly Wassel 1 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radial polydactyly Wassel 2 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radial polydactyly Wassel 3 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radial polydactyly Wassel 4 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radial polydactyly Wassel 5 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radial polydactyly Wassel 6 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radial polydactyly Wassel 7 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radioulnar synostosis and dislocation of radial head Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3

Start Previous Page 126 of 164 Next End

This concept is not in any reference sets

Back to Start