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403796005: Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1782806016 BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1787873015 BIDS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2914034018 Brittle hair-impaired intellect-decreased fertility-short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914654016 Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425072014 Amish brittle hair syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5784911000241112 syndrome BIDS (brittle hair-impaired intellect-decreased fertility-short stature syndrome) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5784921000241117 syndrome de cheveux cassants, déficience intellectuelle, subfertilité et petite taille fr Synonym (core metadata concept) Active Entire term 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
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Is a Genetic defect of hair shaft (disorder) false Inferred relationship Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Is a Brittle hair false Inferred relationship Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Skin structure false Inferred relationship Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Occurrence Congenital false Inferred relationship Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Structure of hair of skin region (body structure) false Inferred relationship Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Hair shaft structure false Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Hair shaft structure false Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Occurrence Congenital true Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology anomalie du développement false Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Hair structure (body structure) false Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Occurrence Congenital false Inferred relationship Some 3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology anomalie du développement false Inferred relationship Some 3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Hair shaft structure false Inferred relationship Some 3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology anomalie du développement false Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Occurrence Congenital true Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome 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
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Skin structure false Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Ectoderm structure false Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Ectoderm structure true Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Skin structure false Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site Hair shaft structure true Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology Dysplasia true Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology Defect false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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