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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, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupillae and retinal detachment. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral metatarsus varus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral metatarsus varus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hammer toe of lesser toe of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hammer toe of lesser toe of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital fistula of pinna of ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cyst of pinna of ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bilateral hands (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital deformity of bilateral hands (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bilateral hip joints (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital deformity of bilateral hip joints (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of toe of left foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of toe of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital deformity of toe of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of toe of right foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bilateral upper limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of bilateral upper limbs (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Accessory tarsal bone of right foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral talipes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral talipes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bilateral talipes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral talipes Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital deformity of right hand (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of left hip joint (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of right hip joint (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of left hand (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare coronary artery congenital malformation with characteristics of anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death especially during exercise. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Talipes of right foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Talipes of right foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Talipes of left foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Talipes of left foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Tarsal coalitions of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Tarsal coalitions of bilateral feet (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital levorotation of heart (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malrotation of heart Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of left forearm and hand (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Congenital absence of left forearm and hand (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital absence of right forearm and hand Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Congenital absence of right forearm and hand Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital absence of right forearm and hand Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital absence of right forearm and hand Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left inferior vena cava connecting to left sided atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Transposition of inferior vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
False knot of umbilical cord Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Wharton's jelly excessive Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left inferior vena cava connecting to left atrium and right atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Left inferior vena cava connecting to right sided atrium (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Long umbilical cord Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Short cord Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Discordant ventriculoarterial connection Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Marginal insertion of umbilical cord Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
True knot of umbilical cord Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Variation of umbilical cord Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Had short umbilical cord Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Abnormal umbilical cord Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Short cord - delivered Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Short cord with antenatal problem Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Vasa previa with antenatal problem Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Vasa previa - delivered Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Velamentous insertion of umbilical cord Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Vasa previa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Four vessels in umbilical cord (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Corrected transposition of great vessels Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of left ear with impairment of hearing Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory auricle of right ear Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory auricle of left ear (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital hemangioma Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Cavernous hemangioma of brain (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous fistula aneurysm Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Hypertrichosis with congenital macrogingivae (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital hypertrichosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital hypertrichosis lanuginosa (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
schwannomatose Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
schwannomatose Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare disorder characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Complete congenital absence of pulmonary trunk with complete congenital absence of pulmonary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Acephaly Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Acephaly Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Agenesis of clavicle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of breast with absent nipple Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Right atrioventricular valve hypoplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Median raphe cyst (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital negative ulnar variant of wrist (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopia lentis et pupillae (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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