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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
5403249014 Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403250014 Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterised by 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. 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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a Congenital maxillary hypoplasia true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a Skeletal dysplasia true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a Craniofacial microsomia false Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Finding site Structure of metaphysis true Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 3
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Finding site Bone structure of maxilla false Inferred relationship Some 3
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) Occurrence Congenital true Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Finding site Bone structure of maxilla true Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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