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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
Small for gestational age fetus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal valproate syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation caused by valproic acid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Large for gestation age fetus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetus small-for-dates with signs of malnutrition Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Harlequin fetus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Harlequin fetus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin avec développement normal des caractères sexuels secondaires et caryotype normal Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Fetal sacral teratoma Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Syndactyly of toes of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Syndactyly of toes of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral megalencephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral megalencephaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
46,XY disorder of sex development due to environmental chemical exposure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
syndrome de délétion 14q32 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
syndrome de délétion 14q32 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
syndrome de délétion 14q32 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
11p15 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
11p15 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
12q15 deletion syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
12q15 deletion syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
11p15 duplication syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
46,XY disorder of sex development Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
46,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double orifice of common atrioventricular valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double orifice of common atrioventricular valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
46,XX androgen-induced disorder of sex development of iatrogenic maternal origin Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
46,XX disorder of sex development caused by synthetic oral progestogen (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
46,XX disorder of sex development caused by synthetic oral diethylstilbestrol Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
46,XX disorder of sex development caused by testosterone and/or testosterone derivative Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
46,XX testicular disorder of sex development (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital developmental abnormality of the ileum where there is a septum occluding the lumen resulting in obstruction of the ileum with proximal intestinal dilation in continuity with a collapsed distal intestine; the intestine develops to a normal length. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital developmental abnormality of the ileum where there is a gap in the intestine resulting in obstruction of the ileum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital developmental abnormality of the ileum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the ileum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atresia of jejunum type I (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital developmental abnormality of the jejunum where there is a gap in the intestine resulting in obstruction of the jejunum; the proximal dilated section of intestine forms a blind end and is connected to the distal smaller segment by a fibrous cord which runs along the edge of the mesentery; the mesentery is intact and the intestine develops to a normal length. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect resulting in obstruction of the jejunum; the proximal dilated section of intestine and the distal narrower segment are both blind ends; the intestine may be reduced in length. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
17q23.1-q23.2 duplication syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
17q24-qter duplication syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
17q24-qter duplication syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
20p12.2 deletion syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
20p12.2 deletion syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
5q22.2 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
5q22.2 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Port-wine stain in proteus syndrome (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Port-wine stain in proteus syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Port-wine stain in proteus syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
7p12-p14 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
7p12-p14 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
7p21.1 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
7p21.1 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
9p24.3 deletion syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
9p24.3 deletion syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
9q34 deletion syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
9q34 deletion syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anomaly of left renal artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of right renal artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital anomaly of renal arteries Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral congenital anomaly of renal arteries Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Short rib polydactyly syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Type IV short rib polydactyly syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
7p partial monosomy (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
7p partial monosomy (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Type III short rib polydactyly syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Pubertal gynaecomastia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachymetatarsia of first metatarsal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachymetatarsia of fourth metatarsal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pubertal gynaecomastia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Pubertal breast hypertrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Massive pubertal hypertrophy of breast Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of cystic duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare teratogenic disorder due to acitretin exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Congenital anomalous tracheobronchial branching (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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