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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 disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Hydromyelocele with hydrocephalus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Cervical myelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
hydromyélocèle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Cervical hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Lumbar hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Thoracic hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Lumbar myelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Thoracic myelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Hydromyelocele with hydrocephalus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 6
Cervical myelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
hydromyélocèle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Cervical hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Lumbar hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Thoracic hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Lumbar myelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Thoracic myelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Lumbosacral spina bifida aperta Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Hemimyelocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Hemimyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Cervical myelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Cervical hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 6
Thoracic hydromyelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 6
Lumbar myelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Thoracic myelocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Cleft of right hard palate (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft of right hard palate (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Cleft of left hard palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft of left hard palate Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Complete cleft of right hard and soft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete cleft of right hard and soft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complete cleft of right hard and soft palate Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Complete cleft of left hard and soft palate (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete cleft of left hard and soft palate (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complete cleft of left hard and soft palate (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Fetal spina bifida (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital anomaly of umbilical artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital chorioretinal coloboma of right eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital chorioretinal coloboma of left eye (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital chorioretinal coloboma of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital chorioretinal coloboma of bilateral eyes (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital megacalycosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital megacalycosis of bilateral kidneys Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital endocardial fibroelastosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital aganglionic megacolon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Long segment Hirschsprung's disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Short segment Hirschsprung's disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Total intestinal aganglionosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Mowat-Wilson syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 8
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 7
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
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) True Pathological developmental process Inferred relationship Some 6
Hirschsprung disease of rectosigmoid region (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Extensive aganglionosis Hirschsprung disease (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
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 7
Aganglionosis of Auerbach's plexus Pathological process (attribute) False 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 2
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Fetal sirenomelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal sirenomelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital extramedullary dermal hematopoiesis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital paucity of intrahepatic bile ducts (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fetal microcephaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital macrocephaly (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Complete left cleft lip and incomplete right cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete left cleft lip and incomplete right cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complete right cleft lip and incomplete left cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete right cleft lip and incomplete left cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral incomplete cleft palate and bilateral incomplete cleft lip Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital stenosis of carotid artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital supravalvular pulmonary stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of eustachian tube Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital urinary meatus obstruction (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital obstruction of large intestine Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
3 beta-Hydroxysteroid dehydrogenase deficiency Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital microvillous atrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital varix Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Stomach in right sided position (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of innominate artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital obstruction of ureteral orifice Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital mydriasis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hepatomegaly Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hydrocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of intestinal tract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital stenosis of distal coronary artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Myostatin related hypertrophy of muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Small left colon syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anal fissure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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