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

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
Embryonic cyst of fallopian tube and broad ligament Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Embryonic cyst of fallopian tube and broad ligament Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oculocutaneous melanocytic naevus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Oculocutaneous melanocytic naevus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital melanocytic nevus of face Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nevus spilus (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Malignant melanoma arising in congenital nevus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Nevus of Ito Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Mongolian spot Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
kongenit pigmenteret kæmpenævus i huden Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Embryonic cyst of cervix Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epidermoid cyst of spleen Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cyst of spleen Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital conjunctival cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cyst of posterior segment of eye Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cyst of esophagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital parameatal cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fold and cyst of posterior segment of eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fold and cyst of posterior segment of eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cyst of Wolffian duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Embryonic cyst of Gartner's duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Wolffian duct cyst - male Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Wolffian duct cyst - female Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Embryonic cyst of female genital structure Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Embryonic cyst of male genital structure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Embryonic cyst of epoophoron Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Embryonic cyst of vagina (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cyst of paramesonephric duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cyst of iris Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Odontogenic keratocyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Naso-labial cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Non-odontogenic developmental cyst of jaw Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Buccal bifurcation cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Median palatal cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Odontogenic cyst Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Gingival cyst of adult Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Botryoid odontogenic cyst (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Naso-palatine duct cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Gingival cyst of neonate (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dentigerous cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Extraosseous calcifying odontogenic cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Median mandibular cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nasopalatinal cyste Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Globulo-maxillary cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lateral radicular cyst Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Embryonic cyst of omentum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Glandular odontogenic cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Residual cyst Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Eruption cyst of jaw Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Inflammatory odontogenic cyst (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital mesenteric cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Primordial cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lateral developmental cyst of jaw Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Radicular cyst Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Third branchial cleft cyst (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Third branchial cleft cyst (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical auricle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Cervical auricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fourth branchial cleft cyst (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fourth branchial cleft cyst (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Second branchial cleft cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Second branchial cleft cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
First branchial cleft cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
First branchial cleft cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Branchial cleft cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Branchial cleft cyst Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Coloboma of retina Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Coloboma of choroid and retina Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Coloboma of choroid and retina Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Agenesis of lower vagina Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of left hemidiaphragm (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Interfrontal craniofaciosynostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Interfrontal craniofaciosynostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital dilatation of aortic arch Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachyolmia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Brachyolmia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical spina bifida without hydrocephalus - open Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Cervical spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital abnormal shape of lacrimal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dens in dente Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Dens in dente Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of middle cardiac vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Systemic to pulmonary collateral artery from left renal artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Systemic to pulmonary collateral artery from left renal artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Trichodental syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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