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724145007: Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3431106011 Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431107019 Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431108012 Syndrome with characteristics of metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. There is evidence this syndrome is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21. 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
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) localisation d'une constatation (attribut) Bone structure of maxilla true Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) Congenital maxillary hypoplasia true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) Craniofacial microsomia false Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) localisation d'une constatation (attribut) Structure of metaphysis true Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 3
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) localisation d'une constatation (attribut) Bone structure of maxilla false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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