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721090002: Dermatoosteolysis Kirghizian type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323452013 Dermatoosteolysis Kirghizian type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323453015 Dermatoosteolysis Kirghizian type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323454014 Kirghizian dermatoosteolysis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402599019 A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402600016 A rare genetic disease characterised by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrisation, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323452013 Dermatoosteolysis Kirghizian type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323453015 Dermatoosteolysis Kirghizian type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323454014 Kirghizian dermatoosteolysis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323455010 Disease with characteristics of recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five siblings in a family of Kirghizian origin (Central Asia). Three of the siblings also presented with keratitis leading to visual impairment or blindness. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402599019 A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402600016 A rare genetic disease characterised by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrisation, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3381161001000110 Dermato-Osteolyse, kirgisischer Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1021301000172114 dermato-ostéolyse type Kirghize fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1021301000172114 dermato-ostéolyse type Kirghize fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381161001000110 Dermato-Osteolyse, kirgisischer Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dermatoosteolysis Kirghizian type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a Degenerative disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a Arthropathy false Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dermatoosteolysis Kirghizian type (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dermatoosteolysis Kirghizian type (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Osteolysis false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dermatoosteolysis Kirghizian type (disorder) Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Dermatoosteolysis Kirghizian type (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dermatoosteolysis Kirghizian type (disorder) Is a Congenital anomaly of joint true Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Osteolysis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Dermatoosteolysis Kirghizian type (disorder) Finding site Joint structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermatoosteolysis Kirghizian type (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dermatoosteolysis Kirghizian type (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dermatoosteolysis Kirghizian type (disorder) Is a Osteoarthritis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dermatoosteolysis Kirghizian type (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dermatoosteolysis Kirghizian type (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoosteolysis Kirghizian type (disorder) Is a Degenerative disorder of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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