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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, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of sacrum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fatal congenital nonlysosomal heart glycogenosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dysplastic ovary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hereditary benign intraepithelial dyskeratosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepiphyseal dysplasia with joint laxity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital torsion of ovary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital torsion of ovary Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dysplasia with increased bone density Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of subcutaneous tissue Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital intracranial vascular malformation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous course of coronary artery through infundibular septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dumbbell ossification of centrum of cervical vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supernumerary thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Inferior vena cava connecting to coronary sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transcaval ureter Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pseudocryptorchism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Pseudocryptorchism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Duane's syndrome of left eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duane's syndrome of left eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Metatropic dysplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Univentricular atrioventricular connection with absent left sided atrioventricular connection (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metaphyseal chondrodysplasia, Jansen type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of scrotum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pena-Shokeir phenotype Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Dysplasia of right kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ankylodactyly Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cleft hard and soft palate with left cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cleft hard and soft palate with left cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cerebro-oculo-facio-skeletal syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying part of left lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying part of left lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Foramen ovale valvar aneurysm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal minoxidil syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fistula of rectum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of eye, ear and neck (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of eye, ear and neck (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital malformation of eye, ear and neck (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Posterior perimaxillary faciosynostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Posterior perimaxillary faciosynostosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital malformation of thumb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital liver grooves Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Right atrioventricular valve leaflets absent in double inlet ventricle (unguarded orifice) (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital emphysema (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital emphysema (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fissured spine Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Fissured spine Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Total anomalous pulmonary venous connection to right atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Total anomalous pulmonary venous connection to right atrium (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
X-linked limb girdle muscular dystrophy with normal dystrophin Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Sacral spina bifida without hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sacral spina bifida without hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Sacral spina bifida without hydrocephalus - closed Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital left vesicoureterorenal reflux Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital left vesicoureterorenal reflux Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of stomach Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pulmonary vein atresia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Specified anomalies of choroid Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital redundant rectal mucosa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of cervix Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of single coronary artery from right coronary artery aortic sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic pancreatic tissue in stomach Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ectopic pancreatic tissue in stomach Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dural carotid cavernous fistula (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dural carotid cavernous fistula (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Longitudinal deficiency of part of upper limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spinal arteriovenous malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of tympanic anulus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Inferior vena cava interruption with bilateral azygos continuation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal aminopterin syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Fetal aminopterin syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isomerism of atrial appendages Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Persistent urogenital sinus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Persistent urogenital sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Proximal penile hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Proximal penile hypospadias (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital absence of artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial expansile osteolysis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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