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1003922004: Rothmund Thomson syndrome type 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4166976010 Rothmund Thomson syndrome type 1 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4166977018 Rothmund Thomson syndrome type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Rothmund Thomson syndrome type 1 (disorder) Is a Rothmund-Thomson syndrome true Inferred relationship Some
Rothmund Thomson syndrome type 1 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Rothmund Thomson syndrome type 1 (disorder) Finding site Skin structure true Inferred relationship Some 1
Rothmund Thomson syndrome type 1 (disorder) Associated morphology Poikiloderma true Inferred relationship Some 1
Rothmund Thomson syndrome type 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Rothmund Thomson syndrome type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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