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773276004: Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3722859014 Ehlers-Danlos syndrome spondylocheirodysplastic type en Synonym Active Entire term case sensitive SNOMED CT core module
3722860016 Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
5133792015 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5133793013 Spondylocheirodysplastic Ehlers-Danlos syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ehlers-Danlos syndrome spondylocheirodysplastic type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome spondylocheirodysplastic type Finding site Skin structure true Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a Hereditary disorder of the integument false Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome spondylocheirodysplastic type Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome spondylocheirodysplastic type Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a Ehlers-Danlos syndrome false Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome spondylocheirodysplastic type Finding site Connective tissue structure true Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome spondylocheirodysplastic type Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome spondylocheirodysplastic type Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome spondylocheirodysplastic type Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a Spondylodysplastic Ehlers-Danlos syndrome true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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