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707273001: Autosomal dominant dyskeratosis congenita (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3029387019 Autosomal dominant dyskeratosis congenita (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3029520015 Autosomal dominant dyskeratosis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant dyskeratosis congenita (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant dyskeratosis congenita (disorder) Is a Dyskeratosis congenita true Inferred relationship Some
Autosomal dominant dyskeratosis congenita (disorder) Associated morphology Dyskeratosis false Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Finding site Skin structure false Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Autosomal dominant dyskeratosis congenita (disorder) Occurrence Congenital false Inferred relationship Some 3
Autosomal dominant dyskeratosis congenita (disorder) Finding site Skin structure false Inferred relationship Some 3
Autosomal dominant dyskeratosis congenita (disorder) Occurrence Congenital true Inferred relationship Some 1
Autosomal dominant dyskeratosis congenita (disorder) Associated morphology Dyskeratosis true Inferred relationship Some 1
Autosomal dominant dyskeratosis congenita (disorder) Finding site Skin structure true Inferred relationship Some 1
Autosomal dominant dyskeratosis congenita (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Autosomal dominant dyskeratosis congenita (disorder) Occurrence Congenital true Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Finding site Ectoderm structure true Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Associated morphology Dysplasia true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Revesz syndrome (disorder) Is a True Autosomal dominant dyskeratosis congenita (disorder) Inferred relationship Some

This concept is not in any reference sets

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