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723442008: Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424630018 Stoelinga de Koomen Davis syndrome en Synonym Active Case sensitive SNOMED CT core
3424631019 Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3424632014 Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive 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 Occurrence Congenital true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence Congenital true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence Congenital true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site External ear structure true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site Knee joint structure true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site Bone structure of jaw true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Hypoplasia true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Valgus deformity true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Congenital anomaly of jaw true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Congenital abnormality of skull and face bones false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site Face structure false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Pathological process Pathological developmental process false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Congenital anomaly of face bones true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Hereditary disorder of tooth true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Finding of dentition true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site Dentition true Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Congenital genu valgum true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Failure of tooth eruption true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Congenital anomaly of bone and joint true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Craniofacial microsomia true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Congenital abnormality of external ear true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a Congenital anomaly of tooth false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence Congenital false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site Tooth structure false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence Congenital false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Developmental abnormality false Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence Congenital false Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Occurrence Congenital false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Congenital valgus deformity false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site Knee joint structure false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site External ear structure false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology Congenital hypoplasia false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site Bone structure of jaw false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Finding site Tooth structure false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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