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56692003: Rhizomelic chondrodysplasia punctata syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
94279017 Rhizomelic chondrodysplasia punctata syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
94280019 Chondrodysplasia punctata, rhizomelic type en Synonym Active Entire term case insensitive SNOMED CT core module
795232016 Rhizomelic chondrodysplasia punctata syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1231632015 RCDP - Rhizomelic chondrodysplasia punctata en Synonym Active Entire term case sensitive SNOMED CT core module
1231633013 Chondrodysplasia punctata, autosomal recessive type en Synonym Active Entire term case insensitive SNOMED CT core module
1231634019 Rhizomelic chondrodysplasia punctata en Synonym Active Entire term case insensitive SNOMED CT core module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Rhizomelic chondrodysplasia punctata syndrome Is a Chondrodysplasia punctata true Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Is a Loss of multiple peroxisomal functions true Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Finding site Structure of epiphysis false Inferred relationship Existential restriction modifier 1
Rhizomelic chondrodysplasia punctata syndrome Associated morphology Dysplasia false Inferred relationship Existential restriction modifier 1
Rhizomelic chondrodysplasia punctata syndrome Associated morphology Deformity false Inferred relationship Existential restriction modifier 1
Rhizomelic chondrodysplasia punctata syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Rhizomelic chondrodysplasia punctata syndrome Is a Metabolic bone disease true Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 2
Rhizomelic chondrodysplasia punctata syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Is a Deformity of bone false Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Is a Disorder of epiphysis true Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Is a Deformity false Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Is a Deformity of bone true Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Rhizomelic chondrodysplasia punctata syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 2
Rhizomelic chondrodysplasia punctata syndrome Associated morphology Deformity true Inferred relationship Existential restriction modifier 1
Rhizomelic chondrodysplasia punctata syndrome Finding site Structure of epiphysis true Inferred relationship Existential restriction modifier 1
Rhizomelic chondrodysplasia punctata syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Rhizomelic chondrodysplasia punctata syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 3
Rhizomelic chondrodysplasia punctata syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 3
Rhizomelic chondrodysplasia punctata syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Rhizomelic chondrodysplasia punctata syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Rhizomelic chondrodysplasia punctata syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Rhizomelic chondrodysplasia punctata syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Rhizomelic chondrodysplasia punctata syndrome Is a Congenital deformity true Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 2
Rhizomelic chondrodysplasia punctata syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Rhizomelic chondrodysplasia punctata type 1 Is a True Rhizomelic chondrodysplasia punctata syndrome Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata type 2 Is a True Rhizomelic chondrodysplasia punctata syndrome Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata type 3 Is a True Rhizomelic chondrodysplasia punctata syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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