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721090002: Dermatoosteolysis Kirghizian type (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3323453015 Dermatoosteolysis Kirghizian type en Synonym Active Initial character case insensitive SNOMED CT core
3323454014 Kirghizian dermatoosteolysis en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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