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782758009: Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755640017 Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755641018 Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5405707015 A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405708013 A rare, genetic, congenital limb malformation syndrome characterised by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. 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
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a Finding of bone in hand true Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a Polydactyly of fingers true Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a Hyperphalangy true Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Associated morphology Deformity false Inferred relationship Some 3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a Finding of musculoskeletal structure of finger true Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a Congenital anomaly of toe true Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a Congenital pectus excavatum (disorder) true Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Associated morphology Deformity false Inferred relationship Some 2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 4
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Finding site Toe structure true Inferred relationship Some 1
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Finding site Bone structure of rib false Inferred relationship Some 2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Finding site Bone structure of sternum false Inferred relationship Some 3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Finding site Bone structure of phalanx of finger true Inferred relationship Some 4
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Associated morphology Depression deformity (morphologic abnormality) true Inferred relationship Some 2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Finding site Bone structure of sternum true Inferred relationship Some 2
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Finding site Bone structure of rib true Inferred relationship Some 3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Associated morphology Abnormal curvature true Inferred relationship Some 3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) Is a Structural abnormality of upper limb bone (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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