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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
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Developmental displacement of brachial plexus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental displacement of brachial plexus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
X-linked intellectual disability, Stocco Dos Santos type is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of right pulmonary artery from ascending aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Enamel pearls Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Enamel pearls Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transverse arrest phalangeal level third ray Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteochondrodysplasia syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Malrotation of the intestine type IIB Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Defects of the tubular (and flat) bones and/or axial skeleton Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital anomaly of prostate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Imperforate anus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Left sided atrium connecting to left ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Focal nodular hypoplasia of liver Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital cystic bronchiectasis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hallux valgus of right great toe (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dysplasia with decreased bone density Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bicornuate uterus - baby delivered with postpartum complication Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Decreased anogenital distance Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amyotrophia congenita Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Amyotrophia congenita Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectrodactyly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital calyceal diverticulum Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital calyceal diverticulum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Brachyolmia type 1 Toledo type Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Brachyolmia type 1 Toledo type Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital aneurysm of ascending aorta Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Macrodactyly of hand Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of chordae tendineae Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of centrum of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left atrial appendage absent Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of left anterior descending coronary artery from pulmonary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Syndactyly of fingers type 8 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pyloric membrane Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cerebral arteriovenous aneurysm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amelogenesis imperfecta co-occurrent with cone rod dystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital adhesions of omentum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormality of canalization and retrogressive differentiation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Midline facial cleft - Tessier cleft 30 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of first metatarsal (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left ventricular hypoplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of cardiac vein Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pseudohermaphroditism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oto-onycho-peroneal syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Oto-onycho-peroneal syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Oto-onycho-peroneal syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oto-onycho-peroneal syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of mandible Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nonsyndromic premature fusion of multiple sutures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of eye Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Genitourinary congenital anomalies Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aganglionosis of colon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital overgrowth of partial lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of right ear (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autosomal recessive omodysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Inferior vena cava to left of spine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital vascular anomaly of eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital imperforate cervix (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Jackson's membrane Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
KBG syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fibrosis of inferior rectus muscle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Perodactylia of multiple toes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of pulmonary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autositic twin of asymmetrical conjoined twins (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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