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721090002: dermato-osteolyse van Kirgizische type (aandoening)


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
6825461000146113 dermato-osteolyse van Kirgizische type (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6825471000146119 dermato-osteolyse van Kirgizische type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Some
Dermatoosteolysis Kirghizian type (disorder) Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a Degenerative disorder false Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a Arthropathy (disorder) false Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital true Inferred relationship Some 3
Dermatoosteolysis Kirghizian type (disorder) Finding site Skin structure false Inferred relationship Some 3
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital true Inferred relationship Some 4
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital true Inferred relationship Some 5
Dermatoosteolysis Kirghizian type (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 4
Dermatoosteolysis Kirghizian type (disorder) Finding site Ectoderm structure false Inferred relationship Some 4
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Osteolysis (morphologic abnormality) false Inferred relationship Some 5
Dermatoosteolysis Kirghizian type (disorder) Finding site Joint structure false Inferred relationship Some 5
Dermatoosteolysis Kirghizian type (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Dermatoosteolysis Kirghizian type (disorder) Finding site Ectoderm structure true Inferred relationship Some 3
Dermatoosteolysis Kirghizian type (disorder) Is a Congenital anomaly of joint true Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital false Inferred relationship Some 2
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dermatoosteolysis Kirghizian type (disorder) Occurrence Congenital true Inferred relationship Some 1
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Osteolysis (morphologic abnormality) true Inferred relationship Some 1
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Dermatoosteolysis Kirghizian type (disorder) Finding site Joint structure true Inferred relationship Some 1
Dermatoosteolysis Kirghizian type (disorder) Finding site Skin structure false Inferred relationship Some 2
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Dermatoosteolysis Kirghizian type (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Finding site Tooth structure true Inferred relationship Some 5
Dermatoosteolysis Kirghizian type (disorder) Is a Osteoarthritis (disorder) true Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Dermatoosteolysis Kirghizian type (disorder) Finding site Nail unit structure true Inferred relationship Some 4
Dermatoosteolysis Kirghizian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Dermatoosteolysis Kirghizian type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Dermatoosteolysis Kirghizian type (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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