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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
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital ocular coloboma (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hereditary clubbing (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Polycystic kidney disease, infantile type Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Duplication of clitoris Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital diverticulum of pharynx Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of right atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of eustachian tube Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pharyngeal pituitary tissue Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pharyngeal pituitary tissue Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Anomalies of the aorta excluding coarction Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cranioectodermal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cranioectodermal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cranioectodermal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital abnormal shape of ovary (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of frontal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of first permanent molar tooth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cochleate uterus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Palatal cyst of newborn (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital aneurysm of sinus of Valsalva Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of scapula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Meromicrosomia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital dislocation of one hip with subluxation of other Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital dislocation of one hip with subluxation of other Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital corneal opacity without visual deficit (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal macrocephaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Progressive recessive dystrophic epidermolysis bullosa (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial hypoplastic, glomerulocystic kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital sutural cataract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Early secondary malformation of the central nervous system Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Inherited epidermolysis bullosa Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Aortopulmonary window Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Symphalangism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acardia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of spleen Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cavernous lymphangioma of skin Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cavernous lymphangioma of skin Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ectopic bone and cartilage in lung Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic bone and cartilage in lung Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transverse arrest phalangeal level fifth ray Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital keratoglobus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Malrotation of the intestine type IIIA Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital diverticulum of intestinal tract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous common origin of brachiocephalic artery and left common carotid artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous common origin of brachiocephalic artery and left common carotid artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Optic disc structural anomaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of ilium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Postlingual non-syndromic genetic deafness Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Double auditory canal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double urinary meatus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of alisphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dislocation of knee Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Robin sequence Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fistula of lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of pinna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Dermatopathia pigmentosa reticularis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Radioulnar dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Radioulnar dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of maxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Larsen syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Larsen syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Larsen syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Residual ventricular septal defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital exomphalos Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital exomphalos Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital deformity of knee joint Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital web of larynx Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital web of larynx Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital short Achilles tendon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of coronary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalies of hypothalamus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of ductus arteriosus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft of hard palate (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metatarsus adductus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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