FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Congenital dislocation of radial head Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nemaline myopathy Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hydatid cyst of Morgagni - male Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Amegakaryocytic thrombocytopenia with congenital malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Birthmark Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
D - transposition of the great vessels (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
D - transposition of the great vessels (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of maxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Sparse hair with short stature and skin anomaly syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Juvenile pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital microcheilia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondylodysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal deficiency of carpal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ehlers-Danlos syndrome, procollagen proteinase resistant Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Ehlers-Danlos syndrome, procollagen proteinase resistant Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital malposition of tibia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spina bifida with stenosis of aqueduct of Sylvius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Spina bifida with stenosis of aqueduct of Sylvius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spina bifida with stenosis of aqueduct of Sylvius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Scapulohumeral muscular dystrophy Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital anomaly of musculoskeletal structure of trunk Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital atresia of left external ear (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth defects Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth defects Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Macrodactyly of fingers - simple Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Naso-maxillary dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Naso-maxillary dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sialic acid storage disease, severe infantile type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital adrenal hyperplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Commissural fusion of pulmonary valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of cerebellum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying unknown zone of distribution Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Major systemic to pulmonary collateral artery supplying unknown zone of distribution Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of ovary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Madelung's deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Madelung's deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Madelung's deformity (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital macular corneal dystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Moynahan's syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Moynahan's syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Moynahan's syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Epidermolysis bullosa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital insufficiency of mitral valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital prolapse of urinary bladder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteopathia striata Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supracardiac location of anomalous pulmonary venous connection to left sided vertical vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
False tendon - heart Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Double cardiac valve orifice Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of auditory canal (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Netherton syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital leg bone bowing Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous fistula thrombosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital arteriovenous fistula thrombosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniopagus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Craniopagus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital fusion of pulmonic cusps Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of humerus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dentinogenesis imperfecta - Shield's type III Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Transverse deficiency of arm, upper arm level - short Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Circumflex runs posterior to pulmonary trunk Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital fenestration of basioccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Retrosternal thyroid gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydromyelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hydromyelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hydromyelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital tracheal collapse (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital tracheal collapse (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Synophrys Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Synophrys Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital anomaly of the peripheral nervous system Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital atresia of nares Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cockayne syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital small anus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Salivary gland heterotopia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

Start Previous Page 44 of 164 Next End

This concept is not in any reference sets

Back to Start