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926342004: Lethal congenital disproportionate short limbed short stature (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4043023015 Lethal congenital disproportionate short limbed short stature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4043024014 Lethal congenital disproportionate short limbed short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4043025010 Lethal congenital short limb short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4043047010 Lethal congenital SLSS (short limb short stature) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal congenital disproportionate short limbed short stature (disorder) Is a Congenital deformity true Inferred relationship Some
Lethal congenital disproportionate short limbed short stature (disorder) Is a Deformity of limb (finding) true Inferred relationship Some
Lethal congenital disproportionate short limbed short stature (disorder) Is a Congenital anomaly of limb true Inferred relationship Some
Lethal congenital disproportionate short limbed short stature (disorder) Is a Disproportionate short stature (disorder) true Inferred relationship Some
Lethal congenital disproportionate short limbed short stature (disorder) Interprets Height / growth measure true Inferred relationship Some 2
Lethal congenital disproportionate short limbed short stature (disorder) Occurrence Congenital true Inferred relationship Some 1
Lethal congenital disproportionate short limbed short stature (disorder) Finding site Limb structure true Inferred relationship Some 1
Lethal congenital disproportionate short limbed short stature (disorder) Associated morphology Abnormally short growth (morphologic abnormality) true Inferred relationship Some 1
Lethal congenital disproportionate short limbed short stature (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Thanatophoric dysplasia Is a True Lethal congenital disproportionate short limbed short stature (disorder) Inferred relationship Some
Atelosteogenesis type 2 Is a True Lethal congenital disproportionate short limbed short stature (disorder) Inferred relationship Some

This concept is not in any reference sets

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