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783013001: Parana hard skin syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757143017 Parana hard skin syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757144011 Parana hard skin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757145012 Hard skin syndrome Parana type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757146013 A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. en Definition 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
Parana hard skin syndrome (disorder) Is a Thickening of skin true Inferred relationship Some
Parana hard skin syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Parana hard skin syndrome (disorder) Is a Chronic disease of skin true Inferred relationship Some
Parana hard skin syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Parana hard skin syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Parana hard skin syndrome (disorder) Is a Chronic arthropathy true Inferred relationship Some
Parana hard skin syndrome (disorder) Finding site Joint structure true Inferred relationship Some 2
Parana hard skin syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Parana hard skin syndrome (disorder) Finding site Skin structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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