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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
Tetralogy of Fallot with atresia of pulmonary valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Tetralogy of Fallot with atresia of pulmonary valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Tetralogy of Fallot with atresia of pulmonary valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Tetralogy of Fallot with atresia of pulmonary valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Secondary pulmonary hypoplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous coronary artery communication (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital renal artery stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Syndactyly of toes with fusion of bones (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Syndactyly of toes with fusion of bones (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Solitary median maxillary central incisor syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Torsion of accessory fallopian tube Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Torsion of accessory fallopian tube Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypochondrogenesis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal vertical shortness of eyelids Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coarctation of aortic arch (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Juxtaposed atrial appendage Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Juxtaposed atrial appendage Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of optic nerve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Interruption of aortic arch between subclavian artery and common carotid artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Trichorhinophalangeal dysplasia type I Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Trichorhinophalangeal dysplasia type I Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Generalized epidermolysis bullosa simplex Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital thickening of scapula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of superior vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Trifid kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infantile GM1 gangliosidosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital melanocytic naevus of trunk Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of trachea Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Accessory navicular bone of foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Pelvis justo major Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple malformation syndrome, small stature, without skeletal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital macroglossia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory thyroid gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of talus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital macrostomia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital absence of premaxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Absent aortic valve cusp (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital structural abnormality of cornea Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cutis laxa, recessive, type I Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial aplasia of the vermis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of descending aorta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft cartilaginous centrum of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying entire right lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying entire right lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital malposition of arch of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Werner syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of blood vessel of orbit proper (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of blood vessel of orbit proper (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Arnold Chiari type 2 without hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence, atresia and stenosis of small intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence, atresia and stenosis of small intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence, atresia and stenosis of small intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dilatation of ureter (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Long narrow head Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Right ventricular outflow tract obstruction due to neoplasm Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital zonular cataract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of great vessel Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bone dysplasia Azouz type Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of centrum of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cyclops Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydromicrocephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydromicrocephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital stenosis of choanae Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acrokeratosis verruciformis of Darier disease (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormality of right superior vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital short esophagus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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