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723451000: Pili torti onychodysplasia syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3424673010 Pili torti onychodysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424674016 Pili torti onychodysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424675015 A form of ectodermal dysplasia with characteristics of dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3978781000052115 syndrom med pili torti och onykodysplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pili torti onychodysplasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Pili torti onychodysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Pili torti onychodysplasia syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 7
Pili torti onychodysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Pili torti onychodysplasia syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 5
Pili torti onychodysplasia syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 5
Pili torti onychodysplasia syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 6
Pili torti onychodysplasia syndrome (disorder) Finding site Skin structure false Inferred relationship Some 6
Pili torti onychodysplasia syndrome (disorder) Finding site nagel, struktur false Inferred relationship Some 7
Pili torti onychodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) Is a Disorder of hair growth true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Finding site Nail unit structure false Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Pili torti onychodysplasia syndrome (disorder) Is a Skin lesion true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 2
Pili torti onychodysplasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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