263654008: Abnormal (qualifier value)

SNOMED CT Concept\Qualifier value (qualifier value)\Finding value (qualifier value)\Normality findings\Abnormal

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Abnormal	Is a	Normality findings	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Instability of joint of left hand (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Instability of joint of left foot	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Instability of joints of bilateral knees (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Instability of joint of right knee	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Instability of joint of right hand (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Abnormality of secretion of gastrin	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Zollinger-Ellison syndrome	Has interpretation	False	Abnormal	Inferred relationship	Some	3
en examen : cicatrisation de la plaie retardée	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Non-healing of skin donor site	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Abnormality of surgical wound	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Delayed healing of surgical wound (finding)	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Non-healing surgical wound (finding)	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Extensive postoperative wound cellulitis	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Postoperative wound cellulitis	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Surgical wound necrosis (finding)	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Granuloma of surgical wound (finding)	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Suture line inflamed (finding)	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Over-granulating secondary intention surgical wound (finding)	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Instability of joint of bilateral feet (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Distal radioulnar joint instability	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Old meconium staining liquor (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Meconium stained liquor - grade II (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Amniotic fluid -meconium stain	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Thick meconium stained liquor	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Thick meconium stained liquor	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Ultrasonography of left kidney abnormal	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Meconium stained liquor - grade III (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Ultrasonography of right kidney abnormal (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Fresh meconium staining liquor	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Ultrasonography of bilateral kidneys abnormal (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Meconium stained liquor - grade I (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Ichthyosis hystrix	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Severe ichthyoses	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Atypical ichthyosis vulgaris with hypogonadism	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Autosomal recessive ichthyosis (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	Has interpretation	True	Abnormal	Inferred relationship	Some	3
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis linearis circumflexa	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis hystrix gravior of Rheydt	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Congenital non bullous ichthyosiform erythroderma (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Cutaneous syndrome with ichthyosis	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Hystrix ichthyosis with deafness	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis bullosa of Siemens	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Non-bullous ichthyosiform erythroderma	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Sjögren-Larsson syndrome (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Erythrodermic lamellar ichthyosis	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis cheek eyebrow syndrome (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Congenital cataract ichthyosis syndrome	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Ichthyosis vulgaris	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	Has interpretation	True	Abnormal	Inferred relationship	Some	4
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Congenital ichthyosis of skin	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Autosomal dominant ichthyosis (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Lamellar ichthyosis (limited type) (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Senter syndrome	Has interpretation	True	Abnormal	Inferred relationship	Some	3
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Porcupine man	Has interpretation	False	Abnormal	Inferred relationship	Some	2
érythrokératodermie, trichorrhexie noueuse et dermatite atopique	Has interpretation	False	Abnormal	Inferred relationship	Some	2
Keratinopathic ichthyosis (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Autosomal dominant ichthyosis vulgaris	Has interpretation	True	Abnormal	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Localised bullous ichthyosiform erythroderma	Has interpretation	True	Abnormal	Inferred relationship	Some	2
A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Autosomal dominant lamellar ichthyosis	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Lamellar ichthyosis	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	Has interpretation	True	Abnormal	Inferred relationship	Some	4
Ichthyosis congenita with biliary atresia	Has interpretation	True	Abnormal	Inferred relationship	Some	3
Non-erythrodermic lamellar ichthyosis	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Eosinophilia of peritoneal fluid (finding)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Dilutional thrombocytopenia	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Developmental articulation disorder (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Blood coagulation disorder with shortened coagulation time	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Discourse disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Factor XII deficiency disease	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Platelet sequestration	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Isolated thrombocytopenia (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	2
Auditory processing disorder	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Hereditary protein S deficiency (disorder)	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Restricted language development	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Defibrination syndrome following molar AND/OR ectopic pregnancy	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Hereditary von Willebrand disease type 1C	Has interpretation	True	Abnormal	Inferred relationship	Some	1
von Willebrand disease, type IID	Has interpretation	False	Abnormal	Inferred relationship	Some	1
Transcortical motor dysphasia	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Factor V Leiden mutation	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Developmental syntactic impairment	Has interpretation	True	Abnormal	Inferred relationship	Some	1
Malignancy-related factor VIII deficiency	Has interpretation	True	Abnormal	Inferred relationship	Some	1

Start Previous Page 36 of 56 Next End

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
391916010	Abnormal	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
655800016	Abnormal (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
139711000077111	anormal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2337331000195117	Abnorm	de	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2337341000195113	Auffällig	de	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module