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723442008: syndrome de pseudoanodontie-hypoplasie maxillaire-genu valgum (trouble)


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
3424630018 Stoelinga de Koomen Davis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424631019 Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424632014 Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
759421000241119 syndrome de pseudoanodontie-hypoplasie maxillaire-genu valgum (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
875031000172119 syndrome de Stoelinga-de Koomen-Davis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
915711000172112 syndrome de pseudoanodontie-hypoplasie maxillaire-genu valgum fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3424633016 An extremely rare syndrome with characteristics of multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Consanguinity in the family suggested autosomal recessive inheritance. 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
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) oreille externe (structure corporelle) true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) articulation du genou (structure corporelle) true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) Bone structure of jaw (body structure) true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) Valgus deformity (morphologic abnormality) true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Congenital anomaly of jaw true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) anomalie congénitale des os du crâne et du visage false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Congenital anomaly of face bones true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Finding of dentition true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) dents true Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) genu valgum congénital true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Failure of tooth eruption true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Congenital anomaly of bone and joint true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Craniofacial microsomia true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Congenital abnormality of external ear true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) Congenital anomaly of tooth (disorder) false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) Congenital valgus deformity false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) articulation du genou (structure corporelle) false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) oreille externe (structure corporelle) false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) Congenital hypoplasia false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) Bone structure of jaw (body structure) false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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