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1251499005: Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5133834012 Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
5133835013 Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
5133836014 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5133837017 Ehlers-Danlos syndrome progeroid type 2 en Synonym Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Is a Spondylodysplastic Ehlers-Danlos syndrome true Inferred relationship Existential restriction modifier
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Is a Kyphoscoliosis deformity of spine true Inferred relationship Existential restriction modifier
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Interprets Body height measure true Inferred relationship Existential restriction modifier 5
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 5
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier 2
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 2
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Finding site Connective tissue structure true Inferred relationship Existential restriction modifier 4
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 4
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier 3
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Associated morphology Lateral abnormal curvature true Inferred relationship Existential restriction modifier 3
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Finding site Musculoskeletal structure of spine true Inferred relationship Existential restriction modifier 6
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Associated morphology Anteroposterior abnormal curvature true Inferred relationship Existential restriction modifier 6
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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