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1003920007: Sabinas brittle hair syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4166970016 Sabinas brittle hair syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4166971017 Sabinas brittle hair syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
7695461000241110 trichothiodystrophie de type B fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7695471000241119 syndrome de cheveux cassants et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7695481000241117 syndrome de Sabinas fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sabinas brittle hair syndrome (disorder) Is a A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. true Inferred relationship Some
Sabinas brittle hair syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Sabinas brittle hair syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Sabinas brittle hair syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Sabinas brittle hair syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Sabinas brittle hair syndrome (disorder) Finding site Hair shaft structure true Inferred relationship Some 2
Sabinas brittle hair syndrome (disorder) Associated morphology Defect false Inferred relationship Some 2
Sabinas brittle hair syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Sabinas brittle hair syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Sabinas brittle hair syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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