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1010609002: Mesomelic dysplasia of upper limb (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4213322013 Mesomelic dysplasia of upper limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4213323015 Mesomelic dysplasia of upper limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6397481000241116 dysplasie mésomélique isolée du membre supérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419151001000116 Dysplasie, mesomele, der oberen Extremität de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mesomelic dysplasia of upper limb (disorder) Is a Finding of bone of upper limb false Inferred relationship Some
Mesomelic dysplasia of upper limb (disorder) Is a Congenital anomaly of upper limb false Inferred relationship Some
Mesomelic dysplasia of upper limb (disorder) Is a Mesomelic dysplasia true Inferred relationship Some
Mesomelic dysplasia of upper limb (disorder) Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Mesomelic dysplasia of upper limb (disorder) Finding site Bone structure of upper limb (body structure) false Inferred relationship Some 1
Mesomelic dysplasia of upper limb (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Mesomelic dysplasia of upper limb (disorder) Occurrence Congenital true Inferred relationship Some 1
Mesomelic dysplasia of upper limb (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mesomelic dysplasia of upper limb (disorder) Clinical course Progressive false Inferred relationship Some 2
Mesomelic dysplasia of upper limb (disorder) Interprets Height / growth measure false Inferred relationship Some 3
Mesomelic dysplasia of upper limb (disorder) Is a Congenital anomaly of radius false Inferred relationship Some
Mesomelic dysplasia of upper limb (disorder) Is a Congenital anomaly of ulna (disorder) true Inferred relationship Some
Mesomelic dysplasia of upper limb (disorder) Interprets Length of radius true Inferred relationship Some 3
Mesomelic dysplasia of upper limb (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Mesomelic dysplasia of upper limb (disorder) Interprets Length of ulna (observable entity) true Inferred relationship Some 4
Mesomelic dysplasia of upper limb (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Mesomelic dysplasia of upper limb (disorder) Finding site Bone structure of ulna true Inferred relationship Some 1
Mesomelic dysplasia of upper limb (disorder) Occurrence Congenital true Inferred relationship Some 2
Mesomelic dysplasia of upper limb (disorder) Finding site Bone structure of radius true Inferred relationship Some 2
Mesomelic dysplasia of upper limb (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Mesomelic dysplasia of upper limb (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Mesomelic dysplasia of upper limb (disorder) Is a Congenital dysplasia of radius (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). Is a True Mesomelic dysplasia of upper limb (disorder) Inferred relationship Some
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Is a True Mesomelic dysplasia of upper limb (disorder) Inferred relationship Some

This concept is not in any reference sets

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