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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
Aplasia of middle phalanx of ring finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of middle phalanx of second toe (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of middle phalanx of fourth toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of middle phalanx of fifth toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of middle phalanx of third toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of muscle of upper limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of muscle of thigh Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of muscle of pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of muscle of limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of muscle of upper arm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of muscle of shoulder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of muscle of abdominal wall (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of neck of femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of pectoralis major muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of pectoral muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of parotid gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of nail unit Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of palmar crease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of nasal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of nipple Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of ovary Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of pancreas Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of toenail Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of thumb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of hand Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of index finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of ring finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of middle finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of second toe (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of little finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of third toe (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of fourth toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of fifth toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of great toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of phalanx of foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of finger (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of index finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of middle finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of ring finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of little finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of second toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of foot Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of thumb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of fourth toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of fifth toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of great toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of premaxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal phalanx of third toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of proximal epiphysis of femur Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of quadriceps femoris muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of third metacarpal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of second metacarpal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of radial artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of sweat gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of spinal cord white matter column (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of ring finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of radius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of rib Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of pubis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of skin of trunk Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of scapula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of soft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of urinary bladder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of triceps brachii Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of vagina Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of upper third of vagina Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of tibia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of vertebra (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of thumb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of vertebral column Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of soft palate (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare spectrum of Mullerian duct anomalies characterised by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterised by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, beaked nose, and small pointed chin). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Morbidly adherent placenta (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, isolated nail anomaly characterised by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Twenty nail dystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital abnormal broad shape of middle phalanx of second toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of finger (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of foot (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of great toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of second toe (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of thumb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of little finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of ring finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of middle finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of middle phalanx of fourth toe Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal broad shape of distal phalanx of index finger (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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