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254092004: Saldino-Mainzer dysplasia (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
378248015 Saldino-Mainzer dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
644936017 Saldino-Mainzer dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2966749018 Conorenal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3788779012 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, skeletal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5081741000241110 dysplasie de Saldino-Mainzer fr Synonym (core metadata concept) Active Only initial character 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
Saldino-Mainzer dysplasia Is a Acromesomelic dysplasia syndrome false Inferred relationship Some
Saldino-Mainzer dysplasia Associated morphology Dysplasia false Inferred relationship Some 1
Saldino-Mainzer dysplasia Occurrence Congenital false Inferred relationship Some
Saldino-Mainzer dysplasia Finding site Musculoskeletal structure of limb false Inferred relationship Some
Saldino-Mainzer dysplasia Finding site Bone structure false Inferred relationship Some 1
Saldino-Mainzer dysplasia Finding site Skeletal system structure false Inferred relationship Some 1
Saldino-Mainzer dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Saldino-Mainzer dysplasia Is a Disorder of extremity (disorder) false Inferred relationship Some
Saldino-Mainzer dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Saldino-Mainzer dysplasia Finding site Bone structure false Inferred relationship Some 1
Saldino-Mainzer dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Saldino-Mainzer dysplasia Finding site Kidney structure true Inferred relationship Some 2
Saldino-Mainzer dysplasia Is a Renal dysplasia true Inferred relationship Some
Saldino-Mainzer dysplasia Occurrence Congenital true Inferred relationship Some 3
Saldino-Mainzer dysplasia Associated morphology Dysplasia true Inferred relationship Some 3
Saldino-Mainzer dysplasia Finding site Bone structure true Inferred relationship Some 3
Saldino-Mainzer dysplasia Occurrence Congenital true Inferred relationship Some 4
Saldino-Mainzer dysplasia Associated morphology anomalie du développement false Inferred relationship Some 4
Saldino-Mainzer dysplasia Finding site Kidney structure false Inferred relationship Some 4
Saldino-Mainzer dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 3
Saldino-Mainzer dysplasia Occurrence Congenital true Inferred relationship Some 1
Saldino-Mainzer dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Saldino-Mainzer dysplasia Finding site Kidney structure false Inferred relationship Some 1
Saldino-Mainzer dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Saldino-Mainzer dysplasia Occurrence Congenital true Inferred relationship Some 2
Saldino-Mainzer dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Saldino-Mainzer dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Saldino-Mainzer dysplasia Finding site Musculoskeletal structure of limb false Inferred relationship Some 1
Saldino-Mainzer dysplasia Associated morphology Dysplasia true Inferred relationship Some 2
Saldino-Mainzer dysplasia Finding site Cerebellar structure true Inferred relationship Some 4
Saldino-Mainzer dysplasia Is a Congenital anomaly of retina true Inferred relationship Some
Saldino-Mainzer dysplasia Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Saldino-Mainzer dysplasia Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Saldino-Mainzer dysplasia Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Saldino-Mainzer dysplasia Is a Cerebellar ataxia true Inferred relationship Some
Saldino-Mainzer dysplasia Is a Hereditary ataxia (disorder) true Inferred relationship Some
Saldino-Mainzer dysplasia Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Saldino-Mainzer dysplasia Is a Skeletal dysplasia true Inferred relationship Some
Saldino-Mainzer dysplasia Finding site Structure of retinal pigment epithelium true Inferred relationship Some 1
Saldino-Mainzer dysplasia Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Saldino-Mainzer dysplasia Is a Retinal pigment epithelial dystrophy true Inferred relationship Some
Saldino-Mainzer dysplasia Associated morphology Dystrophy true Inferred relationship Some 1
Saldino-Mainzer dysplasia Is a Hereditary disorder of nervous system false Inferred relationship Some
Saldino-Mainzer dysplasia Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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