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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
3858451000005115 patologisk udviklingsproces da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation with characteristics of an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Childhood disintegrative disorder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Active disintegrative psychoses Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Residual disintegrative psychoses Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cognitive developmental delay (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Borderline cognitive developmental delay Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital arteriovenous malformation of duodenum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Epidermolysis bullosa simplex with hypodontia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Eisenmenger ventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Limb reduction-ichthyosis syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hereditary camptodactyly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melnick-Fraser syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Melnick-Fraser syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Pulmonic stenosis and congenital nephrosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pulmonic stenosis and congenital nephrosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Senter syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Albinism-deafness syndrome of Tietz (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Craniofacial deafness hand syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniofacial deafness hand syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Craniofacial deafness hand syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Myhre syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Præmatur abnorm placenta Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Residual trophoblastic disease (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Gestational trophoblastic disease (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Gestational trophoblastic lesion (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Disorder characterized by abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Placental site trophoblastic tumour Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Gestational choriocarcinoma (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epithelioid trophoblastic tumor Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Invasive hydatidiform mole (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete hydatidiform mole Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial hydatidiform mole Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydatidiform mole, benign (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Twin dichorionic diamniotic placenta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Twin monochorionic diamniotic placenta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Twin dichorionic diamniotic placenta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Twin monochorionic monoamniotic placenta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
abnorm amnion Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Amnion nodosum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydropic degeneration of chorionic villi Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Placenta tripartita Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Placenta succenturiata Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic placenta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
choriovitellin placenta Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Placenta extrachorales Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Placenta adherent to previous uterine scar Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hereditary clubbing Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Stenosis of fetal mitral valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Narrowing of fetal arterial duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Closure of fetal arterial duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Stenosis of fetal pulmonary valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Stenosis of fetal truncal valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Stenosis of fetal aortic valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Stenosis of fetal left atrioventricular (not morphologically mitral) valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal yolk sac Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Twin placenta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Root stunting (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mesotaurodontism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Localized macrodontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Localized microdontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Generalized macrodontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
True generalized microdontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Taurodontism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Microdontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Exaggerated cingulum of tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Enamel spur Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Paired teeth microdontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Single tooth microdontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Amelogenesis imperfecta, hypoplastic type with microdontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Tapered teeth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Single tooth macrodontia (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Hypotaurodontism (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 6
Globodontia (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 6
Fusion of teeth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Fusion of mandibular incisor teeth (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Macrodontia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Precocious exfoliation of teeth due to idiopathic root resorption (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Precocious exfoliation of teeth due to root resorption following trauma (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Reverse position of adjacent teeth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Beckwith-Wiedemann syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Congenital absence of skin on scalp Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Barber-Say syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Barber-Say syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Barber-Say syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4

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