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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
Congenital chorioretinal degeneration of bilateral eyes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital chorioretinal degeneration of bilateral eyes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital chorioretinal degeneration of bilateral eyes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital chorioretinal degeneration of bilateral eyes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare skin hamartoma characterized by at least one pigmented skin lesion present at birth of more than 20 cm (large congenital melanocytic nevus; LCMN) or 40 cm (giant; GCMN) projected adult diameter. The primary lesion is composed of mutated melanocytes and often locally disorganized epidermal annexes or dermis, and presents with an elevated risk of malignant transformation to melanoma or, more rarely, other neoplasms in skin or central nervous system. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of right ear (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pigmented melanocytic naevus of skin of left ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital melanocytic nevus of skin of left upper eyelid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital melanocytic nevus of skin of left lower eyelid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital melanocytic nevus of skin of right lower eyelid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital melanocytic naevus of skin of right upper eyelid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital melanocytic naevus of skin of lower eyelid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital melanocytic nevus of skin of upper eyelid (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital vitreous opacity of left eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital vitreous opacity of right eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital vitreous opacity of bilateral eyes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital vitreous opacity of bilateral eyes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Neurocutaneous melanosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neurocutaneous melanosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dermal melanocytic hamartoma (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Stromal cell hyperplasia in androgen insensitivity syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Testicular lesion in androgen insensitivity syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary eye muscle of right eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary eye muscle of left eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary eye muscle of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary eye muscle of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital blepharophimosis of left palpebral fissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital blepharophimosis of right palpebral fissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft lip nasal deformity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft lip nasal deformity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Partial epiphyseal arrest of bilateral distal tibias Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of bilateral distal radii Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of bilateral distal radii Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Partial epiphyseal arrest of bilateral distal femurs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of bilateral distal femurs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Partial epiphyseal arrest of right distal tibia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of left distal radius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of right distal radius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of distal radius (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of distal femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of left distal tibia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial epiphyseal arrest of bilateral distal tibias Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Partial epiphyseal arrest of distal tibia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Congenital glenoid dysplasia of left scapula (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital glenoid dysplasia of right scapula (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital glenoid dysplasia of bilateral scapulae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital glenoid dysplasia of bilateral scapulae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Melorheostosis of left humerus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis of left humerus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Melorheostosis of right humerus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis of right humerus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Melorheostosis of humerus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis of femur (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis of femur (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Melorheostosis of left femur (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis of left femur (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Melorheostosis of right femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis of right femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Melorheostosis of bilateral femurs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis of bilateral femurs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Melorheostosis of bilateral femurs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Melorheostosis of bilateral femurs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Melorheostosis of skull Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melorheostosis of skull Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
PPM-X syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Melorheostosis of humerus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cystic hamartoma of lung and kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cystic hamartoma of lung and kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complete epiphyseal arrest of left distal tibia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete epiphyseal arrest of right distal tibia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete epiphyseal arrest of bilateral distal tibias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete epiphyseal arrest of bilateral distal tibias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Epiphyseal arrest of right femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of left lower leg (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of right lower leg Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of left femur (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of bilateral femurs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of bilateral femurs Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Epiphyseal arrest of bilateral lower legs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of bilateral lower legs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Epiphyseal arrest of lower leg Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of left forearm (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of right forearm (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of bilateral forearms Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal arrest of bilateral forearms Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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