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403781006: PIBIDS-syndroom (aandoening)


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
1782791014 PIBIDS syndrome, photosensitivity with IBIDS en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2973045014 Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2973263016 Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6252591000146117 PIBIDS-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6252601000146110 fotosensitieve trichothiodystrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6252611000146112 PIBIDS-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6252621000146119 TTD type F nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6252631000146117 trichothiodystrofie type F nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6252651000146111 'photosensitivity-ichthyosis-brittle hair-impaired intelligence-decreased fertility-short stature'-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Is a Genetic defect of hair shaft (disorder) false Inferred relationship Some
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence Congenital false Inferred relationship Some
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Skin structure false Inferred relationship Some
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair structure (body structure) false Inferred relationship Some
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair shaft structure (body structure) false Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair shaft structure (body structure) false Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence Congenital true Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair structure (body structure) false Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence Congenital false Inferred relationship Some 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair shaft structure (body structure) false Inferred relationship Some 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Occurrence Congenital true Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Is a Trichothiodystrophy (disorder) true Inferred relationship Some
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Skin structure false Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Ectoderm structure false Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Skin structure false Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site Hair shaft structure (body structure) true Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and 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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