308490002: Pathological developmental process (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Process (qualifier value)\Pathological process\Pathological developmental process

\Special atomic mapping values\Special disorder atoms\Pathological process\Pathological developmental process

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

3858451000005115 patologisk udviklingsproces da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
Hajdu-Cheney syndrome	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Hajdu-Cheney syndrome	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Jugular lymphatic obstruction sequence	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Pentalogy of Fallot	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	5
Pentalogy of Fallot	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	4
Pentalogy of Fallot	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Pentalogy of Fallot	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Caliber persistent labial artery (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital thickening of femur	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Undergrowth of whole hand	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Undergrowth of whole hand	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital venous malformation of skin (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Congenital venous malformation of skin (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Webbed penis	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital abnormality of Eustachian tube	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital coloboma of iris	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare monogenic disease with characteristics of neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. Caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene.	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	1
Pygomelus	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Pygomelus	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Primary renal dysplasia (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Male pseudohermaphroditism	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Spinal cord dysplasia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital dilatation of pulmonary artery	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital bowing of fibula	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Pulmonary trunk atresia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Encephalomyelocele	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Encephalomyelocele	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Congenital abnormal shape of pubis	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital anomaly of heart valve	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital absence of arch of lumbar vertebra	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Patella dysplasia	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Patella dysplasia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Caylers kardiofaciale syndrom	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Caylers kardiofaciale syndrom	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	1
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Congenital anomaly of spinal meninges	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder)	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	3
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Postductal interruption of aorta	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Hexadactyly	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Malattachment of atrial septum (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Cleft hard palate with right cleft lip (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Cleft hard palate with right cleft lip (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Autosomal recessive dyskeratosis congenita	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital anomaly of esophagus	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Hyperphosphatasemia tarda	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Hyperphosphatasemia tarda	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Myelatelia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Cervical hemivertebra - unbalanced	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital hypoplasia of arch of cervical vertebra	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Angelman syndrome	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Anomalous muscle bands of left ventricle	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital anomaly of vertebral region of back	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital hypertrophy of lung	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Axenfeld anomaly	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	3
Axenfeld anomaly	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Axenfeld anomaly	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital downward displacement of stomach	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Mandibular retrognathism	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Clastothrix	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Clastothrix	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Clastothrix	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	3
Congenital absence of liver	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Acrania	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital abnormal fusion of calcaneus	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Fetal alcohol syndrome	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Short segment Hirschsprung's disease	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Short segment Hirschsprung's disease	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Short segment Hirschsprung's disease	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Localized hypoplasia of tooth (disorder)	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Olive dysplasia	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Singleton-Merten syndrome	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Congenital absence of vas deferens	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Ocular albinism, type I	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Atresi af indre næsebor	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	1
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	3
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	Pathological process (attribute)	False	Pathological developmental process	Inferred relationship	Some	2
Humeroulnar synostosis	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1
Humeroulnar synostosis	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Systemic to pulmonary collateral artery from descending thoracic aorta	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	2
Systemic to pulmonary collateral artery from descending thoracic aorta	Pathological process (attribute)	True	Pathological developmental process	Inferred relationship	Some	1

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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
3858451000005115	patologisk udviklingsproces	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)