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724069009: Patterson Stevenson Fontaine 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
3429800010 Patterson Stevenson Fontaine syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429801014 Patterson Stevenson Fontaine syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429802019 Split foot deformity with mandibulofacial dysostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3429803012 A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity. 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
Patterson Stevenson Fontaine syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) localisation d'une constatation (attribut) Bone structure of extremity true Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) Congenital anomaly of face bones true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) Dysostosis true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Patterson Stevenson Fontaine syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Patterson Stevenson Fontaine syndrome (disorder) localisation d'une constatation (attribut) os de la face (structure corporelle) true Inferred relationship Some 2
Patterson Stevenson Fontaine syndrome (disorder) localisation d'une constatation (attribut) Bone structure of extremity false Inferred relationship Some 3
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) Lesion of face (finding) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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