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723442008: syndroom van niet doorkomen van tanden, hypoplasie van maxilla en genu valgum (aandoening)


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
6967221000146114 syndroom van Stoelinga-De Koomen-Davis nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7034931000146111 syndroom van niet doorkomen van tanden, hypoplasie van maxillaire en genu valgum nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8062771000146118 syndroom van niet doorkomen van tanden, hypoplasie van maxilla en genu valgum (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8066401000146116 syndroom van niet doorkomen van tanden, hypoplasie van maxilla en genu valgum nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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) 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 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Congenital genu valgum true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Failure of tooth eruption true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Craniofacial microsomia true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Congenital abnormality of external ear true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology congenitale valgusdeformiteit (afwijkende morfologie) false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site Knee joint structure (body structure) false Inferred relationship Some 7
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site External ear structure false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology congenitale hypoplasie (afwijkende morfologie) false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site Bone structure of jaw (body structure) false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence Congenital 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site External ear structure true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site Knee joint structure (body structure) true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site Bone structure of jaw (body structure) true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology Valgus deformity true Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Congenital anomaly of jaw true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Congenital abnormality of skull and face bones false Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Is a Developmental hereditary disorder true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Congenital anomaly of face bones true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Finding of dentition true Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Finding site Dentition true Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Interprets Eruption of tooth true Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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